Results 101 to 110 of about 7,994 (153)

Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants. [PDF]

J Med Genet
Li J, Zhan Z, Zhang X, Wu B, Liu W.
europepmc   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]

Front Genet
Han H, Zhu X, Chai L, Ha Y, Zhao F, Pan L.   +5 more
europepmc   +1 more source

Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre. [PDF]

Clin Otolaryngol
Sakin I, Swords C, Ball J, Oakley-Hannibal E, Cunniffe H, Holden S, Bance M, Bewick J.   +7 more
europepmc   +1 more source

Disparities in deafness gene mutations between Han and Li ethnic newborns in Hainan, China: insights from a combined screening program. [PDF]

BMC Med Genomics
Qi X, Wang D, Liu S, Jiao B, Tian X, Dai P, Su Y.   +6 more
europepmc   +1 more source

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics. [PDF]

Mol Med
Koparir A, Carbajal PB, Zamini M, Naghinejad M, Najarzadeh Torbati P, Hofrichter MAH, Tovornik S, Koparir E, Dragicevic Babic N, Rad A, Owrang D, Kalay I, Chamanrou N, Martínez Völter LN, Christophersen N, Baranzehi T, Rajati M, Loum S, Kunstmann E, Shadab M, Abbasi AA, Doosti M, Alidadiani N, Ghaderi S, Haack TB, Alavi S, Doll J, Kremer H, Kordi-Tamandani DM, Murphy D, Mohammad R, Hebestreit H, Ghayoor Karimiani E, Flandin S, Linares P, Villalobos D, Houlden H, Galehdari H, Shehata-Dieler W, Maroofian R, Haaf T, Vona B.   +41 more
europepmc   +1 more source

Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model. [PDF]

J Clin Invest
Tsai YH, Wu PY, Chuang YC, Huang CY, Takeda H, Hibino H, Wu CC, Cheng YF.   +7 more
europepmc   +1 more source

Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review. [PDF]

Front Oncol
Wu H, Xu J, Xu R, Shi L, Xu L, Zhou J, Zheng H.   +6 more
europepmc   +1 more source

Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487). [PDF]

PLoS One
Ren B, Wu Y, Gan W, Zhang Q, Yang D, Cao W, Zhang X, Jiang Y, Zhang Y, Guo B, Tie Y, Liu J, Cai G, Wang Y, Ma Y.   +14 more
europepmc   +1 more source

Analysis of the Expression and Mutation of Several Genes Related to Hearing Loss in Children in Vietnam. [PDF]

Cureus
Hoang PT, Quan NT, Hoang CX, Vo TTB.
europepmc   +1 more source

Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns. [PDF]

Open Med (Wars)
Lian J, Wu T, Jin A, Wang H, Cheng Z.
europepmc   +1 more source