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Longer titles found: Genetic Testing and Molecular Biomarkers (view), Point-of-care genetic testing (view)

searching for genetic testing 118 found (1878 total)

Ectodermal dysplasia (2,120 words) [view diff] exact match in snippet view article find links to article

dental and hair abnormalities, and characteristic facial features. Genetic testing can confirm the diagnosis, especially when there is a family history

Refsum disease (1,516 words) [view diff] exact match in snippet view article find links to article

tests showing above average serum levels of phytanic acid, or through genetic testing. Individuals with Refsum disease present with neurologic damage, cerebellar

Tricho-rhino-phalangeal syndrome Type 1 (524 words) [view diff] exact match in snippet view article find links to article

identification of characteristic physical features, and radiographic findings. Genetic testing can confirm mutations in the TRPS1 gene. Treatment of TRPS I is symptomatic

Methylmalonic acidemias (4,446 words) [view diff] exact match in snippet view article find links to article

B12 responsiveness. The final diagnosis is confirmed by molecular genetic testing if biallelic pathogenic variants are found in the affected gene(s)

Interstitial lung disease (2,996 words) [view diff] no match in snippet view article find links to article

Interstitial lung disease (ILD), or diffuse parenchymal lung disease (DPLD), is a group of respiratory diseases affecting the interstitium (the tissue)

Popliteal pterygium syndrome (1,211 words) [view diff] exact match in snippet view article find links to article

(PPS) can be diagnosed prenatally through ultrasound and confirmed via genetic testing. Ultrasound imaging can identify characteristic physical anomalies

Retinoblastoma (4,832 words) [view diff] case mismatch in snippet view article find links to article

PMID 9544909. Retinoblastoma information from MedlinePlus retinoblastoma at NIH/UW GeneTests RB1 Mutation Database NCBI Genetic Testing Registry

Bytadosi (1,609 words) [view diff] exact match in snippet view article find links to article

Petrov is believed to have been a descendant of the Crnojević dynasty. Genetic testing has confirmed that the Bekaj brotherhood is indeed related to the neighboring

Melungeon (4,216 words) [view diff] no match in snippet view article find links to article

Melungeon (/məˈlʌndʒən/ mə-LUN-jən) (sometimes also spelled Malungean, Melangean, Melungean, Melungin) was a slur historically applied to individuals and

Genzyme (2,024 words) [view diff] no match in snippet view article find links to article

approximately 65 countries, including 17 manufacturing facilities and 9 genetic-testing laboratories. Its products were also sold in 90 countries. In 2007

Ankylosing spondylitis (5,972 words) [view diff] no match in snippet view article find links to article

Ankylosing spondylitis (AS) is a type of arthritis from the disease spectrum of axial spondyloarthritis. It is characterized by long-term inflammation

22q13 deletion syndrome (4,022 words) [view diff] exact match in snippet view article find links to article

Human Phenotype Browser search for 'hypotonia' and the OMIM database). Genetic testing is necessary to confirm the diagnosis of PMS. A prototypical terminal

McKusick–Kaufman syndrome (1,842 words) [view diff] exact match in snippet view article find links to article

have been linked to a pathogenic phenotype. There are advancements in genetic testing, that have improved the diagnostic accuracy, such as multigene panels

DNAPrint Genomics (1,913 words) [view diff] exact match in snippet view article find links to article

difficult to identify. Autosomal DNA testing is a specific type of genetic testing that is done by looking at a subset of DNA regions in the autosomal

Theory of Kashmiri descent from lost tribes of Israel (379 words) [view diff] exact match in snippet view article find links to article

the Kashmiri people originally descended from the Ten Lost Tribes. Genetic testing and historical analysis have disproved this theory, though it maintains

Neonatal diabetes (2,757 words) [view diff] no match in snippet view article find links to article

Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a kind of diabetes that

Stargardt disease (2,918 words) [view diff] exact match in snippet view article find links to article

examination were found to be misdiagnosed when subsequent genetic testing was done. Genetic testing can be utilized to ensure a proper diagnosis for which

Érika Coimbra (322 words) [view diff] exact match in snippet view article find links to article

Volleyball Women's World Cup. She is a free agent. Coimbra passed all genetic testing required by the FIVB and the International Olympic Committee to play

State privacy laws of the United States (902 words) [view diff] exact match in snippet view article find links to article

California Legislative Information (October 7, 2021). "SB-41 Privacy: genetic testing companies". Harrell, Heather (2016). "Biobanking Research and Privacy

Anne Wojcicki (1,891 words) [view diff] case mismatch in snippet view article find links to article

web}}: CS1 maint: numeric names: authors list (link) 23andMe. "DNA Genetic Testing & Analysis - 23andMe". www.23andme.com. Archived from the original

Kenneth Blum (1,769 words) [view diff] exact match in snippet view article find links to article

exists to justify such a concept. He holds multiple patents relating to genetic testing and treatment for the supposed syndrome that have been licensed through

Genetic predisposition (1,786 words) [view diff] exact match in snippet view article find links to article

issue. Upon diagnosing individuals with particular conditions via genetic testing, their genetic predisposition can be measured with pedigree trees.

Rowton, Shropshire (1,085 words) [view diff] no match in snippet view article find links to article

Rowton is a small village in the Telford and Wrekin Borough, Shropshire, England. It is located seven miles north-west of Wellington. The area is a Chapelry

Designer baby (9,030 words) [view diff] case mismatch in snippet view article find links to article

Based on the specific analysis conducted: PGT-M (Preimplantation Genetic Testing for monogenic diseases) is a technique used during IVF to detect hereditary

Hereditary nonpolyposis colorectal cancer (5,044 words) [view diff] exact match in snippet view article find links to article

MSH6, and PMS2) or the EPCAM gene, identified by genetic testing. Candidates for germline genetic testing can be identified by clinical criteria such as

Poitevin horse (3,692 words) [view diff] no match in snippet view article find links to article

The Poitevin (French pronunciation: [pwat(ə)vɛ̃]) or Poitou is a French breed of draft horse. It is named for its area of origin, the former province of

Aleutian wild cattle (260 words) [view diff] exact match in snippet view article find links to article

approximately 2,000 cattle on the island. Their origins are not known; genetic testing shows them to be genetically distinct from common American commercial

1628 in Sweden (294 words) [view diff] exact match in snippet view article find links to article

2004 identified 15 adults and remains of at least two others. Further genetic testing will reveal more about the Vasa's crew. Foundation of the Lantmäteriet

Demasduit (1,605 words) [view diff] no match in snippet view article find links to article

Demasduit (c. 1796 – January 8, 1820) was a Beothuk woman, one of the last of her people on Newfoundland. Demasduit was born around 1796, near the end

Succinate dehydrogenase complex subunit C (2,178 words) [view diff] exact match in snippet view article find links to article

Rodríguez-Antona C, Robledo M (September 2009). "Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma"

Methyltransferase (2,919 words) [view diff] case mismatch in snippet view article find links to article

N-methyltransferase". NCBI Genetic Testing Registry. Retrieved 18 February 2014. "HNMT histamine N-methyltransferase". NCBI Genetic Testing Registry. Retrieved

EMX2 (948 words) [view diff] case mismatch in snippet view article find links to article

1460-2075.1992.tb05284.x. PMC 556692. PMID 1376248. "Schizencephaly". Genetic Testing Registry (GTR). National Center for Biotechnology Information, U.S

Nonosabasut (1,214 words) [view diff] no match in snippet view article find links to article

Nonosabasut (died March 1819) was a leader of the Beothuk people. He was the head of a family and partner of Demasduit, and was born on the island of Newfoundland

Nonosabasut (1,214 words) [view diff] no match in snippet view article find links to article

Nonosabasut (died March 1819) was a leader of the Beothuk people. He was the head of a family and partner of Demasduit, and was born on the island of Newfoundland

Monosomy (336 words) [view diff] exact match in snippet view article find links to article

occurrence in early developing embryos as demonstrated in preimplantation genetic testing". Mol Cytogenet. 15 (1): 11. doi:10.1186/s13039-022-00582-5. PMC 8935781

Bighorn sheep (3,981 words) [view diff] exact match in snippet view article find links to article

14 kg (30 lb); the sheep typically weigh up to 143 kg (315 lb). Recent genetic testing indicates three distinct subspecies of Ovis canadensis, one of which

Hexanchiformes (1,622 words) [view diff] exact match in snippet view article find links to article

confirmed: Genetic testing finds a different sixgill shark". ScienceDaily. Retrieved 2020-08-21. "New species of shark discovered through genetic testing". phys

× Sorbaronia fallax (339 words) [view diff] exact match in snippet view article find links to article

artificial hybrid between Aronia melanocarpa and Sorbus aucuparia. Before genetic testing, it was thought to be a hybrid among cultivars of Aronia melanocarpa

Human Fertilisation and Embryology Act 1990 (2,394 words) [view diff] no match in snippet view article find links to article

The Human Fertilisation and Embryology Act 1990 (c. 37) is an Act of the Parliament of the United Kingdom. It created the Human Fertilisation and Embryology

Branchio-oto-renal syndrome (1,189 words) [view diff] exact match in snippet view article find links to article

characterization, mutation distribution, and prospects for genetic testing". Genetic Testing. 1 (4): 243–251. doi:10.1089/gte.1997.1.243. PMID 10464653

Island spotted skunk (1,593 words) [view diff] no match in snippet view article find links to article

The island spotted skunk (Spilogale gracilis amphiala) is an insular endemic carnivore and a subspecies of the western spotted skunk (Spilogale gracilis)

Nonsyndromic deafness (1,853 words) [view diff] exact match in snippet view article find links to article

for visible abnormalities or signs of underlying conditions. Genetic testing: Genetic testing may be recommended, especially if there is a family history

AARS2 (1,533 words) [view diff] exact match in snippet view article find links to article

findings are critical for diagnosis. Diagnostic confirmation involves genetic testing to identify pathogenic variants in AARS2. Whole exome sequencing (WES)

Turkification (8,054 words) [view diff] no match in snippet view article find links to article

Turkification, Turkization, or Turkicization (Turkish: Türkleştirme) describes a shift whereby populations or places receive or adopt Turkic attributes

GeneReviews (190 words) [view diff] exact match in snippet view article find links to article

Bird, Thomas D.; Popovich, Bradley (2002). "GeneTests-GeneClinics: Genetic testing information for a growing audience". Human Mutation. 19 (5): 501–9

Mostafa Ronaghi (617 words) [view diff] exact match in snippet view article find links to article

co-founded ParAllele BioScience to develop this multiplexed technology for genetic testing. ParAllele was acquired by Affymetrix in May 2005. In 2005, he co-founded

Wolfram syndrome (5,032 words) [view diff] exact match in snippet view article find links to article

of Wolfram syndrome is multifaceted, involving clinical evaluation, genetic testing, laboratory investigations, and imaging studies. Clinical evaluation

Susan Michie (1,373 words) [view diff] exact match in snippet view article find links to article

genetic testing, informed choice and decision making about prenatal screening and genetic testing, and the psychological impact of predictive genetic

Cytochrome b5 reductase (3,135 words) [view diff] case mismatch in snippet view article find links to article

00043-3. ISBN 978-0-323-35762-3. "CYB5R1 cytochrome b5 reductase 1 - NIH Genetic Testing Registry (GTR) - NCBI". ncbi.nlm.nih.gov. Archived from the original

Haplogroup R-DF27 (575 words) [view diff] no match in snippet view article find links to article

In human genetics, Haplogroup R-DF27 (R1b1a2a1a2a) is a Y-chromosome haplogroup which is a subdivision of haplogroup R-M269 (more specifically, its subclade

Biorepository (906 words) [view diff] exact match in snippet view article find links to article

and Prevention (CDC) Genetic Testing Reference Material Program (GeT-RM) maintains DNA samples for use in molecular genetic testing. These samples are from

Combined malonic and methylmalonic aciduria (3,261 words) [view diff] exact match in snippet view article find links to article

vitamin B12 in vivo. The final diagnosis is confirmed by molecular genetic testing if biallelic pathogenic variants are found in ACSF3 gene. There are

Spondyloarthritis (5,897 words) [view diff] exact match in snippet view article find links to article

diagnosed based on symptoms and imaging. Early diagnosis criteria use genetic testing and more advanced forms of medical imaging. Spondyloarthritis is categorized

Salla disease (1,022 words) [view diff] exact match in snippet view article find links to article

by identifying genetic mutation(s) in the SLC17A5 gene by molecular genetic testing. This testing is available on a clinical basis. There is no cure for

Spondyloarthritis (5,897 words) [view diff] exact match in snippet view article find links to article

diagnosed based on symptoms and imaging. Early diagnosis criteria use genetic testing and more advanced forms of medical imaging. Spondyloarthritis is categorized

Leber congenital amaurosis (1,757 words) [view diff] exact match in snippet view article find links to article

(December 2007). "Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture".

KRT27 (94 words) [view diff] case mismatch in snippet view article find links to article

Information, U.S. National Library of Medicine. "KRT27 keratin 27 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-06-25

Osteogenesis imperfecta (15,404 words) [view diff] exact match in snippet view article find links to article

tomography. OI can also be detected before birth by using an in vitro genetic testing technique such as amniocentresis. In order to determine whether osteogenesis

Recurrent miscarriage (5,536 words) [view diff] exact match in snippet view article find links to article

of cases, the exact cause of pregnancy loss is unexplained despite genetic testing and a thorough evaluation. When a cause for RPL is identified, almost

Chromosome 7 (2,949 words) [view diff] case mismatch in snippet view article find links to article

2011.1. PMC 3709024. PMID 22241104. Gilbert F (2002). "Chromosome 7". Genetic Testing. 6 (2): 141–161. doi:10.1089/10906570260199429. PMID 12215256. Hillier

Multiple myeloma (13,217 words) [view diff] no match in snippet view article find links to article

Multiple myeloma (MM), also known as plasma cell myeloma and simply myeloma, is a cancer of plasma cells, a type of white blood cell that normally produces

Lev's disease (2,738 words) [view diff] no match in snippet view article find links to article

Lev's disease, also known as Lenègre disease, is an idiopathic disease that can result in a complete heart block, or an extremely slowed heart rate, in

Dor Yeshorim (1,319 words) [view diff] exact match in snippet view article find links to article

girls rap on genetic testing in viral video". The Times of Israel. Retrieved 2016-05-22. "WATCH: Orthodox girls rap on genetic testing in viral video"

Rob Elles (197 words) [view diff] case mismatch in snippet view article find links to article

Co-operation and Development's guidelines for quality assurance in molecular Genetic Testing. He was chair of the British Society for Human Genetics from 2007 to

Cow shark (827 words) [view diff] exact match in snippet view article find links to article

shark species confirmed: Genetic testing finds a different sixgill shark". "New species of shark discovered through genetic testing". ReefQuest Centre: Order

D-Glyceric acidemia (380 words) [view diff] exact match in snippet view article find links to article

GLYCTK gene) OMIM [2] (information on GLYCTK gene, encoding Glycerate Kinase) GeneTests [3] (information on genetic testing for D-Glyceric Acidemia)

CDKL5 (2,244 words) [view diff] exact match in snippet view article find links to article

vary widely, and cases have been reported in both males and females. Genetic testing for CDKL5 is recommended in infants presenting with epileptic encephalopathy

Tumor marker (1,850 words) [view diff] case mismatch in snippet view article find links to article

Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Johns Hopkins University Press

Renal cysts and diabetes syndrome (528 words) [view diff] exact match in snippet view article find links to article

as well, such as in 17q12 microdeletion syndrome.[citation needed] Genetic testing for mutations on the HNF1B gene can indicate MODY 5. The presence of

Hyper-IgM syndrome type 3 (675 words) [view diff] exact match in snippet view article find links to article

Hyper-IgM syndrome type 1,2,3,4 and 5 Diagnostic method MRI, Chest radiography and genetic testing Treatment Allogeneic hematopoietic cell transplantation

Len Tepper (1,088 words) [view diff] exact match in snippet view article find links to article

Scheduled Newscast for Wounded Warrior, the 2017 Edward R Murrow for Genetic testing Gold Rush, and the 2017 Emmy for Investigative Report in a regular

Clan Pollock (804 words) [view diff] case mismatch in snippet view article find links to article

Pollock". 15 June 2020. Retrieved 26 March 2023. "FamilyTreeDNA - Genetic Testing for Ancestry, Family History & Genealogy". www.familytreedna.com. Retrieved

SDHD (2,718 words) [view diff] exact match in snippet view article find links to article

Rodríguez-Antona C, Robledo M (September 2009). "Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma"

Lymphedema–distichiasis syndrome (729 words) [view diff] exact match in snippet view article find links to article

Paolacci, Stefano; Marinelli, Carla; Bertelli, Matteo (2018-09-01). "Genetic testing for lymphedema-distichiasis syndrome". The EuroBiotech Journal. 2 (s1):

Thyroid dyshormonogenesis (469 words) [view diff] exact match in snippet view article find links to article

release after perchlorate administration, which can be confirmed by genetic testing. Levothyroxine is the treatment of choice (starting dose 10-15 mcg/kg/day)

Gigantiform cementoma (2,053 words) [view diff] exact match in snippet view article find links to article

regulation and cell signaling. With the new research there can be genetic testing done for diagnosis. This can help with early detection, close monitoring

Domestication of the cat (2,226 words) [view diff] case mismatch in snippet view article find links to article

inactive as of November 2024 (link) Lyons, Leslie (December 2012). "Genetic Testing in Domestic Cats". National Institute's of Health. PMID 22546621. "Felis

Turner syndrome (9,412 words) [view diff] exact match in snippet view article find links to article

possibly none occur at all. Diagnosis is based on physical signs and genetic testing. No cure for Turner syndrome is known. Treatment may help with symptoms

Hexanchus (850 words) [view diff] exact match in snippet view article find links to article

Genetic testing finds a different sixgill shark". ScienceDaily. Retrieved 7 February 2019. "New species of shark discovered through genetic testing"

KIF6 (565 words) [view diff] case mismatch in snippet view article find links to article

case-control study of coronary artery disease in Western Indians". Genetic Testing and Molecular Biomarkers. 15 (12): 883–6. doi:10.1089/gtmb.2011.0079

PURA syndrome (1,396 words) [view diff] exact match in snippet view article find links to article

the profound neurological phenotype. Diagnosis is confirmed through genetic testing and management remains supportive. Patients (usually children, but

Familial thoracic aortic aneurysm (549 words) [view diff] exact match in snippet view article find links to article

through a combination of clinical evaluation, imaging studies, and genetic testing. Patients especially those with a relevant family history are typically

SLC13A5 citrate transporter disorder (861 words) [view diff] exact match in snippet view article find links to article

patterns. Diagnosis is suspected based on symptoms and confirmed by genetic testing. Individuals with SLC13A5 Epilepsy require an accurate diagnosis to

Epidermolytic hyperkeratosis (611 words) [view diff] exact match in snippet view article find links to article

these are unaffected. Diagnosis is by its appearance, skin biopsy, and genetic testing. The condition can be diagnosed via exam that reveals; generalized

Mitochondrial encephalomyopathy (1,726 words) [view diff] exact match in snippet view article find links to article

damage. Throughout the past 10 years, there have been major advances in genetic testing, which have transformed how mitochondrial disorders are diagnosed.

SDHB (3,010 words) [view diff] exact match in snippet view article find links to article

malignant catecholamine-producing paragangliomas: implications for genetic testing". The Journal of Clinical Endocrinology and Metabolism. 91 (11): 4505–4509

Pancreatic cancer (13,579 words) [view diff] exact match in snippet view article find links to article

cases rather than diagnosis. All those with pancreatic cancer require genetic testing as high risk oncogenic mutations may provide prognostic information

GJC3 (708 words) [view diff] case mismatch in snippet view article find links to article

are not a major cause of nonsyndromic hearing impairment in India". Genetic Testing and Molecular Biomarkers. 14 (4): 539–41. doi:10.1089/gtmb.2010.0026

Paul J. Turek (2,433 words) [view diff] no match in snippet view article find links to article

Dr. Paul J Turek (born July 8, 1960, Manchester, Connecticut) is an American physician and surgeon, men's reproductive health specialist, and businessman

Acatalasia (412 words) [view diff] case mismatch in snippet view article find links to article

blood (acatalasaemia); report of nine cases". Lancet. 2 (6745): 1101–4. doi:10.1016/s0140-6736(52)90939-2. PMID 12991731. MedGen Genetic Testing Registry

Beare–Stevenson cutis gyrata syndrome (483 words) [view diff] exact match in snippet view article find links to article

craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific

Dystrophinopathy (169 words) [view diff] exact match in snippet view article find links to article

dystrophy, Becker muscular dystrophy, DMD-associated dilated cardiomyopathy Causes Genetic (inherited or new mutation) Diagnostic method Genetic testing

Hyper-IgM syndrome type 4 (688 words) [view diff] exact match in snippet view article find links to article

Hyper-IgM syndrome type 1,2,3,4 and 5 Diagnostic method MRI, Chest radiography and genetic testing Treatment Allogeneic hematopoietic cell transplantation

Cutis (anatomy) (165 words) [view diff] case mismatch in snippet view article

ISBN 978-0-7020-2968-4, retrieved 2024-11-24 "Aplasia cutis congenita - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-12-07

Catel–Manzke syndrome (105 words) [view diff] case mismatch in snippet view article find links to article

others): Highly arched eyebrow Joint stiffness Scoliosis Short stature Genetic Testing Currently there are only around 26 people in the world that are known

Genetic Information Nondiscrimination Act (1,629 words) [view diff] exact match in snippet view article find links to article

legislation does not go far enough in enabling personal control over genetic testing results. The law does not cover life, disability, or long-term care

Oncology (2,718 words) [view diff] exact match in snippet view article find links to article

S2CID 2544266. Katsanis, Sara Huston; Katsanis, Nicholas (2013). "Molecular genetic testing and the future of clinical genomics". Nat Rev Genet. 14 (6): 415–426

Haplogroup Q-M242 (13,557 words) [view diff] case mismatch in snippet view article find links to article

PMID 21674832. "Family Tree DNA – Genetic Testing for Ancestry, Family History & Genealogy". "Family Tree DNA – Genetic Testing for Ancestry, Family History

In vitro fertilisation (21,421 words) [view diff] exact match in snippet view article find links to article

enable gestational surrogacy, and, in combination with pre-implantation genetic testing, avoid the transmission of abnormal genetic conditions. When a fertilised

Cyclic nucleotide gated channel beta 3 (819 words) [view diff] exact match in snippet view article find links to article

S2CID 45853869. Koenekoop RK, Lopez I, den Hollander AI, et al. (2007). "Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions"

Genetic studies on Sri Lankan Tamils (848 words) [view diff] exact match in snippet view article find links to article

population – implications for association study design and clinical genetic testing services, Experimental and Molecular Pathology, Volume 87, Issue 2

I-cell (1,467 words) [view diff] exact match in snippet view article find links to article

lysosomal enzyme activity that suggest I-Cell Disease, specialists perform genetic testing to identify any GNPTAB gene mutations. To identify specific mutations

Keratin 2A (1,107 words) [view diff] exact match in snippet view article find links to article

bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing". Br. J. Dermatol. 152 (6): 1353–6. doi:10.1111/j.1365-2133.2005.06598

Gordon syndrome (947 words) [view diff] exact match in snippet view article find links to article

birth, such as clubfoot or cleft palate. Diagnosis is conducted by genetic testing to identify mutations in the PIEZO2 gene, and x-rays may be ordered

Gordon syndrome (947 words) [view diff] exact match in snippet view article find links to article

birth, such as clubfoot or cleft palate. Diagnosis is conducted by genetic testing to identify mutations in the PIEZO2 gene, and x-rays may be ordered

PGT (125 words) [view diff] exact match in snippet view article find links to article

PokerGO Tour (founded 2021), an American poker tour Preimplantation genetic testing (see Preimplantation genetic diagnosis) Puccinia graminis f. sp. tritici

Eiken syndrome (476 words) [view diff] exact match in snippet view article find links to article

Diagnosis often includes clinical evaluation, radiographic imaging, and genetic testing to identify mutations that may be responsible for the syndrome. The

CYP2C19 (3,879 words) [view diff] case mismatch in snippet view article find links to article

community, the Centers for Disease Control and Prevention established the Genetic Testing Reference Material Program to meet the need for publicly available

Hypercalciuria (653 words) [view diff] exact match in snippet view article find links to article

There can be an underlying genetic component that is beyond current genetic testing available. In familial cases it is common that 50% of first degree

Syncoilin (1,531 words) [view diff] case mismatch in snippet view article find links to article

M2-Polarized Macrophages in the Gastric Tumor Immune Microenvironment". Genetic Testing and Molecular Biomarkers. 25 (3): 236–246. doi:10.1089/gtmb.2020.0131

Amal dynasty (959 words) [view diff] case mismatch in snippet view article find links to article

Origin and Deeds of the Goths (Getica) Vadamerca "FamilyTreeDNA – Genetic Testing for Ancestry, Family History & Genealogy". FamilyTreeDNA. Retrieved

Vitelliform macular dystrophy (1,150 words) [view diff] case mismatch in snippet view article find links to article

Genetics Home Reference Best's disease - eMedicine.com GeneReviews/NCBI/NIH/UW entry on Best Vitelliform Macular Dystrophy NCBI Genetic Testing Registry

KIR2DS1 (705 words) [view diff] case mismatch in snippet view article find links to article

receptor (KIR) genotypes in patients with familial Mediterranean fever". Genetic Testing and Molecular Biomarkers. 13 (1): 91–5. doi:10.1089/gtmb.2008.0081

Seckel syndrome (680 words) [view diff] exact match in snippet view article find links to article

anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis. Genetic testing can confirm diagnosis. There is no cure for Seckel syndrome. Symptomatic

Laura J. van 't Veer (972 words) [view diff] no match in snippet view article find links to article

genetic-testing-for-breast-cancer/ https://ascopost.com/issues/august-10-2019/how-laura-j-van-t-veer-phd-became-an-expert-in-genetic-testing-for-breast-cancer/

Hyper-IgM syndrome type 2 (716 words) [view diff] exact match in snippet view article find links to article

Hyper-IgM syndrome type 1,2,3,4 and 5 Diagnostic method MRI, Chest radiography and genetic testing Treatment Allogeneic hematopoietic cell transplantation

COLD-PCR (1,607 words) [view diff] exact match in snippet view article find links to article

COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing". Nature Medicine. 14 (5): 579–84. doi:10.1038/nm1708. PMID 18408729

Hyper-IgM syndrome type 5 (732 words) [view diff] exact match in snippet view article find links to article

Hyper-IgM syndrome type 1,2,3,4 and 5 Diagnostic method MRI, Chest radiography and genetic testing Treatment Allogeneic hematopoietic cell transplantation