Results 141 to 150 of about 1,452,519 (228)

An <i>HK1</i> pathogenic variant associated with an atypical retinal dystrophy phenotype: a case report and insights from literature. [PDF]

Int J Ophthalmol
Su YY, Qiu KR, Wen F, Zhou XL.
europepmc   +1 more source

Autosomal dominant optic atrophy and peripheral neuropathy [PDF]

, 2020
openaire   +1 more source

Presentation of Bilateral Optic Disc Coloboma-Morning Glory Syndrome in Mother and Son, with Retinitis Pigmentosa in the Father. [PDF]

Turk J Ophthalmol
İslambekov Y, Çakır B, Ateş K.
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]

Clin Genet
Johannesen KM, Grønskov K, Kessel L, Holstein SLV, Møller LB, Andersen MKG, Khinchi MS, Hamann S, Wegener M, Bertelsen M.   +9 more
europepmc   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy. [PDF]

Clin Genet
Volk M, Maver A, Vidmar MJ, Trošt N, Višnjar T, Fakin A, Kovač L, Habjan MŠ, Malinar L, Pajić SP, Jerman UD, Romih R, Hawlina M, Peterlin B.   +13 more
europepmc   +1 more source

Spectrum of Hereditary Ataxia in Omani Children. [PDF]

J Clin Med
Al-Habsi A, Al-Thihli K, Al-Ajmi E, Al-Futaisi A, Al-Badi A, Al-Amrani F.   +5 more
europepmc   +1 more source

ALPK1-Associated ROSAH Syndrome in a Polish Pedigree. [PDF]

Genes (Basel)
Pietras-Baczewska A, Chmiel A, Ognik K, Rejdak R, Nowomiejska K.   +4 more
europepmc   +1 more source

Etiologic spectrum and predictors of visual acuity in non-glaucomatous optic atrophy. [PDF]

SAGE Open Med
Sharifi M, Zand A, Sharifi M, Sharifi A.
europepmc   +1 more source

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy. [PDF]

Diabet Med
L'Amie A, Vincent AL, Jefferies CA, Braatvedt G, Wiltshire E, Mouat F, Albert BB, Murphy R.   +7 more
europepmc   +1 more source

Mitochondrial Genetic Diseases and Ophthalmic Manifestations: Molecular Pathophysiology, Genetics, and Clinical Management. [PDF]

Int J Mol Sci
Abu-Amero KK.
europepmc   +1 more source