Results 121 to 130 of about 33,870 (219)

Senear-Usher Syndrome—I [PDF]

Proceedings of the Royal Society of Medicine, 1939
openaire   +2 more sources

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. [PDF]

Mol Genet Genomic Med
Ma Q, Xu C, Xu X, Xiang Y.
europepmc   +1 more source

A Case Report on Senear-Usher Syndrome. [PDF]

Cureus, 2023
Jangid SD, Madke B, Singh A, Bhatt DM, Khan A.   +4 more
europepmc   +1 more source

Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry. [PDF]

Mol Cell Proteomics
Zou J, Yu D, Mathur PD, Nordhagen CP, Zou X, Bonaldo P, Yang J.   +6 more
europepmc   +1 more source

Listening Effort and Its Relation to Spatial Localization, and Vestibular and Visual Impairment in Usher Syndrome-Our Experience. [PDF]

Audiol Res
Di Cesare T, Michieletto P, Bonati MT, De Caro F, Cossu P, Torelli F, Orzan E.   +6 more
europepmc   +1 more source

Usher syndrome [PDF]

, 2020
openaire   +3 more sources

Spontaneous resolution of cystoid macular edema with concurrent axial elongation in a pediatric patient with Usher syndrome type 1B: a case report. [PDF]

BMC Ophthalmol
Wang A, Qi X, Li Y, Li X, Qian X.
europepmc   +1 more source

From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A. [PDF]

Otol Neurotol
Wijn DH, Fehrmann MLA, Robijn SMM, Velde HM, Smits JJ, van Wijk E, Beynon AJ, Cals FLJ, Hoyng CB, Yzer S, Lanting CP, Pennings RJE.   +11 more
europepmc   +1 more source

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity. [PDF]

Proc Natl Acad Sci U S A
Riahi Z, Boucher S, Abdi S, Wong Jun Tai F, Singh-Estivalet A, Aghaie A, Niasme-Grare M, Hardelin JP, Behlouli A, Dahmani M, Talbi S, Bouyacoub Y, Mkaouar R, Charfeddine C, Amalou G, Bakhchane A, Bousfiha A, Salime S, Elrharchi S, Salame M, Hadrami M, Boussaty E, Charoute H, Detsouli M, Snoussi K, Rouba H, Hachmi HE, Veten F, Meiloud G, Marrakchi J, Zainine R, Chahed H, Besbes G, Trabelsi M, Mrad R, Kraoua I, Ouhab S, Djennaoui D, Boudjenah F, Chouery E, Mustapha M, Houmeida A, Barakat A, Khodja FA, Makrelouf M, Zenati A, Beltaief N, Abdelhak S, Petit C, Bonnet C.   +49 more
europepmc   +1 more source