Results 141 to 150 of about 9,451 (197)

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

Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols. [PDF]

Doc Ophthalmol
Padhy SK, Habjan MŠ, Constable PA.
europepmc   +1 more source

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance. [PDF]

Neurogenetics
Gillesse EH, Wan M, Ashtiani S, Suchowersky O, Parboosingh JS, Bernier FP, Lamont RE, Innes AM, Au PYB, Care4Rare Canada Consortium.   +9 more
europepmc   +1 more source

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report. [PDF]

Cureus
Varghese DE, Sudhakar S.
europepmc   +1 more source