Results 101 to 110 of about 445 (162)

Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international study. [PDF]

Ophthalmic Genet
Uner OE, Elsharawi R, Reynolds M, Bacci GM, Bargiacchi S, Birch DG, Chen FK, Jain N, Heath Jeffery RC, Lamey TM, Mustafi D, da Palma MM, Sallum JMF, Torres Soto M, Jones K, Yang P, Pennesi ME, Everett LA.   +17 more
europepmc   +1 more source

An Atypical Case of Cyclic Esotropia

JAPANESE ORTHOPTIC JOURNAL, 1980
openaire   +2 more sources

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report. [PDF]

BMC Pediatr
Candelo E, Giraldo-Ocampo S, Nevado J, Lapunzina P, Pachajoa H.   +4 more
europepmc   +1 more source

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +1 more source

Transient response to high-dose niacin therapy in a patient with NAXE deficiency. [PDF]

JIMD Rep
Al-Amrani F, Al-Thihli K, Al-Ajmi E, Al-Futaisi A, Al-Murshedi F.   +4 more
europepmc   +1 more source

業績集　：　滋賀医科大学　眼科学講座　著書 [PDF]

, 2014
滋賀医科大学　眼科学講座
core   +1 more source

Retinitis pigmentosa [PDF]

, 2009
Hartong, Dyonne Tabitha
core   +2 more sources

In vivo confocal microscopic evaluation of patients with epidermolysis bullosa demonstrates severe loss of corneal nerves. [PDF]

Am J Ophthalmol Case Rep
Saricay LY, Fidan DG, Galinko S, Huynh E, Thompson A, Chen VM, Hamrah P.   +6 more
europepmc   +1 more source

Achromatopsia: Long term visual performance and clinical characteristics. [PDF]

Eur J Ophthalmol
Eshel YM, Abaev O, Yahalom C.
europepmc   +1 more source

Cohen syndrome : a clinical study of 29 Finnish patients [PDF]

, 2000
Kivitie-Kallio, Satu
core