Results 51 to 60 of about 9,773 (106)

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades. [PDF]

J Cell Mol Med
Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B.   +6 more
europepmc   +1 more source

In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina. [PDF]

NAR Genom Bioinform
Buonfiglio PI, Bruque CD, Salatino L, Lotersztein V, Pace M, Grinberg S, Elgoyhen AB, Plazas PV, Dalamón V.   +8 more
europepmc   +1 more source

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss. [PDF]

Sci Rep
Lei P, Zhu Q, Dong W.
europepmc   +1 more source

A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl. [PDF]

Cureus
Alasmari BG, Alpakra M, Hassanien SS, Elmugadam AA, Elzubair L, Suliman EA, Alghubishi SA.   +6 more
europepmc   +1 more source

[Phenotypic and pathogenic variant analysis of an X-linked dominant inherited non-syndromic hearing loss pedigree]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Zhai Z, Xu H, Wang L, Zhu X, Zhang Y, Li L, Zhang X, Li T, Wang K, Ye F.   +9 more
europepmc   +1 more source

A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss. [PDF]

BMC Med Genomics
He M, Hu M, Zhang Q, Yao K.
europepmc   +1 more source

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants. [PDF]

BMC Med Genomics
Xue J, Xie L, Zheng Q, Xiong F, Wu X, Fan J, Zhang Y, Wang D, Zhang Q, Wang Q.   +9 more
europepmc   +1 more source

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss. [PDF]

BMC Med Genomics
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S.   +6 more
europepmc   +1 more source

Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report. [PDF]

Medicine (Baltimore)
Tao Y, Hu Z, Han D, Song W, Wang L, Wang H, Li X.   +6 more
europepmc   +1 more source

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases. [PDF]

Hum Genet
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE, DOOFNL Consortium, Pennings RJE, Kremer H.   +15 more
europepmc   +1 more source