Results 181 to 190 of about 1,452,519 (228)

Frequency and Hearing Loss Phenotypes of <i>OPA1</i> Variants in a Cohort of 18,475 Patients with Hearing Impairment. [PDF]

Genes (Basel)
Kawakita M, Moteki H, Nishio SY, Kobayashi Y, Adachi M, Okano T, Yamazaki H, Nakayama J, Ohira S, Ishino T, Takumi Y, Usami SI.   +11 more
europepmc   +1 more source

Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report. [PDF]

Cureus
Murati Calderon RA, Landestoy G, Izquierdo N.   +2 more
europepmc   +1 more source

The First Case Series of Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy in Türkiye Identified with <i>EFEMP1</i> Gene Mutation. [PDF]

Turk J Ophthalmol
İşbilir A, Güzel A, Kocabey M, Çağlayan AO, Kartı Ö, Ayhan Z, Saatci AO.   +6 more
europepmc   +1 more source

UCHL1-Related Dominant Optic Atrophy: Report of Two New Families. [PDF]

Neuroophthalmology
Lee NS, Grigg JR, Stark Z, Ahmad K.
europepmc   +1 more source

Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method

Elliott J, Ahmadi S, Yu-Wai-Man P, Gladstone S, Gebel S, Lynch T, Barrett T, Urano F, International Wolfram Syndrome Clinical Guidelines Consortium.   +8 more
europepmc   +1 more source