Results 231 to 240 of about 139,963 (293)

Retrospective Analysis of Hearing Outcomes of Cochlear Implantation in Patients with Deafness Due to Congenital CMV Infection. [PDF]

J Clin Med
Zajdel N, Rosiak O, Pietrzak N, Skalski M, Konopka W.   +4 more
europepmc   +1 more source

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Nature Genetics, 2009
C. Lagresle-Peyrou, E. Six, C. Picard, F. Rieux-Laucat, Vincent Michel, Andrea Ditadi, Corinne Demerens-de Chappedelaine, E. Morillon, F. Valensi, K. Simon-Stoos, J. Mullikin, L. Noroski, C. Besse, N. Wulffraat, A. Ferster, M. Abecasis, F. Calvo, C. Petit, F. Candotti, L. Abel, A. Fischer, M. Cavazzana‐Calvo   +21 more
semanticscholar   +1 more source

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. [PDF]

Chin Med J (Engl), 2017
Chu XY, Li YP, Nie M, Wang O, Jiang Y, Li M, Xia WB, Xing XP.   +7 more
europepmc   +1 more source

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

European Journal of Human Genetics, 2009
O. Alsmadi, B. Meyer, F. Alkuraya, S. Wakil, Fadi Alkayal, H. Al‐Saud, K. Ramzan, M. Al-Sayed   +7 more
semanticscholar   +1 more source

Newborn Hearing Screening-Polish Experience: A Narrative Review. [PDF]

J Clin Med
Szyfter K, Gawęcki W, Szyfter W.
europepmc   +1 more source

The first Chinese case with LCAEOD syndrome caused by mutation of <i>TUBB4B</i> gene. [PDF]

Int J Ophthalmol
Long YL, Liu X, Wang G, Liu B, Meng XH, Liu Y.   +5 more
europepmc   +1 more source

Rare Variant of Bartter Syndrome with Sensorineural Deafness

, 2016
Rajesh Kumar, Pankaj Kumar, Manoj Kumar
openalex   +2 more sources

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA^Lys (m.8340G>A) gene variant. [PDF]

Br J Ophthalmol, 2017
Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM.   +8 more
europepmc   +1 more source

Influential publications in sudden hearing loss: a bibliometric and visual synopsis of the top 100 cited articles. [PDF]

Front Neurol
Di X, Liang J, Wang X, Bai X, Zhang C, Pan T, He T, Bai P.   +7 more
europepmc   +1 more source

Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report. [PDF]

Clin Case Rep
Ali M, Javeriya S, Ahmad MH, Babar I, Rehan MMB, Iman H, Saeed H.   +6 more
europepmc   +1 more source