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searching for GJB2 10 found (328 total)

alternate case: gJB2

Nagwa Abdel Meguid (1,230 words) [view diff] exact match in snippet view article find links to article

amino acids of the plasma membrane. Meguid described a new mutation for the GJB2 gene ( a gene responsible for recessive non-syndromic deafness) with a deletion
TECTA (841 words) [view diff] exact match in snippet view article find links to article
Nishimura CJ, McMordie S, Smith RJ (2007). "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree". Clin. Genet
List of genes mutated in cutaneous conditions (108 words) [view diff] exact match in snippet view article find links to article
Lymphedema–distichiasis syndrome Meige lymphedema GALNT3 Familial tumoral calcinosis GJB2 Connexin 26 KID syndrome Vohwinkel syndrome Bart–Pumphrey syndrome GJB3 Connexin
Otoferlin (1,276 words) [view diff] exact match in snippet view article find links to article
isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". European Journal of
Pendrin (2,276 words) [view diff] exact match in snippet view article find links to article
isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". European Journal of
CDH23 (1,364 words) [view diff] exact match in snippet view article find links to article
"Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10
USP53 (780 words) [view diff] exact match in snippet view article find links to article
QJ (December 2015). "Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary
Hyperacusis (4,210 words) [view diff] exact match in snippet view article find links to article
Recently, it has been discovered that individuals with one copy of the GJB2 (Cx26) genetic mutation exhibit hearing that is more sensitive than average
Preimplantation genetic diagnosis (14,457 words) [view diff] exact match in snippet view article find links to article
orientation, height, beauty, or intelligence. Some tests, like those for GJB2 mutations linked to hereditary deafness, might lead to requests for PGD to
Gordon Awandare (1,681 words) [view diff] exact match in snippet view article find links to article
Geoffrey K.; Awandare, Gordon A.; Wonkam, Ambroise (2020). "Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice