Results 111 to 120 of about 9,987 (182)

Candidate Genes for Non-Syndromic Pediatric Cataracts. [PDF]

Clin Ophthalmol
Rossen JL, Drackley A, Goetsch Weisman A, Ing A, Bohnsack BL.   +4 more
europepmc   +1 more source

The Neuro-Ophthalmologic Manifestations of <i>SPG7</i>-Associated Disease. [PDF]

J Pers Med
Jauregui R, Diaz Curbelo C, Galetta SL, Grossman SN.   +3 more
europepmc   +1 more source

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 NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis. [PDF]

Front Genet
St Clair Tracy H, Dutton GN, Hall HN, Blaikie A.   +3 more
europepmc   +1 more source

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy. [PDF]

Diagnostics (Basel)
Wójcik-Niklewska B, Oliwa Z, Dzięcioł K, Smędowski A.   +3 more
europepmc   +1 more source

Case series: The value of fundus autofluorescence in inherited macular disease. [PDF]

Optom Vis Sci
Guro M, Wang H, Phu J, Patel NB, Sapoznik KA, Shah H, Kalloniatis M.   +6 more
europepmc   +1 more source

The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach. [PDF]

J Clin Med
Orsucci D, Caldarazzo Ienco E, Giuntini M, Vista M.   +3 more
europepmc   +1 more source

Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum. [PDF]

eNeurologicalSci
Toyoda N, Komiya H, Miyaji Y, Nishihama S, Takeda M, Asano T, Hashiguchi S, Takahashi K, Higashiyama Y, Fujita A, Matsumoto N, Doi H, Tanaka F.   +12 more
europepmc   +1 more source

A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach. [PDF]

Ann Med Surg (Lond)
Khandelwal S, Kumar A, Sharma S, Kaur A, Bandyopadhyay AK.   +4 more
europepmc   +1 more source