Results 141 to 150 of about 7,382 (203)

Elucidating the genetic landscape of inherited retinal disorders in India. [PDF]

Hum Genomics
Mathias GP, Raj Rajendran K, Selot R, Shetty R, Kumaramanickavel G, Ghosh A, Ghosh A.   +6 more
europepmc   +1 more source

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss. [PDF]

Eur J Hum Genet
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM.   +23 more
europepmc   +1 more source

Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota. [PDF]

Cureus
Nagarajan DR, Kakade SJ.
europepmc   +1 more source

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease. [PDF]

Int J Mol Sci
Priglinger CS, Gerhardt MJ, Priglinger SG, Schaumberger M, Neuhann TM, Bolz HJ, Mehraein Y, Rudolph G.   +7 more
europepmc   +1 more source

[Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Zhao H, Ma X, Qu Y, Li G, Lin K, Huang R, Zhou L, Ma J.   +7 more
europepmc   +1 more source

Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care. [PDF]

Laryngoscope
Colbert BM, Smeal M, Cromar ZJ, Rosa P, Blanton SH, Lam BL, Liu XZ.   +6 more
europepmc   +1 more source

Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study. [PDF]

Biomed Rep
Zhou Z, Dai J, Chen W, Zhu F, Shen J, Wang P, Zhou X, Fu Y.   +7 more
europepmc   +1 more source

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches. [PDF]

Genome Res
Stemerdink M, Riepe T, Zomer N, Salz R, Kwint M, Oostrik J, Timmermans R, Ferrari B, Ferrari S, Dueñas Rey A, Delanote E, de Bruijn SE, Kremer H, Roosing S, Coppieters F, Hoischen A, Cremers FPM, 't Hoen PAC, van Wijk E, de Vrieze E.   +19 more
europepmc   +1 more source

Inequalities in the provision of guideline-directed medical therapy following myocardial infarction: a cohort study. [PDF]

BMC Cardiovasc Disord
McLachlan F, de Bakker M, Pancinha C, Caparrotta TM, Jackson C, Ashcroft T, Anand A, Gallacher PJ, Miller-Hodges E, Yeung D, Dhaun N, Tuck C, Mills NL, Kimenai DM.   +13 more
europepmc   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians. [PDF]

J Paediatr Child Health
Lin R, Ma A, Nash BM, McPherson Z, Grigg JR, Jamieson RV.   +5 more
europepmc   +1 more source