Results 131 to 140 of about 7,578 (154)

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications. [PDF]

Eur J Hum Genet
Kohli S, Saxena R, Saxena R, Puri RD, Bijarnia Mahay S, Pal S, Dubey S, Arora V, Verma I.   +8 more
europepmc   +1 more source

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. [PDF]

Mol Genet Genomic Med
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL.   +4 more
europepmc   +1 more source

Reply to letter to editor: Low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India. [PDF]

Saudi J Ophthalmol
Raman R, Gopalakrishnan S, Velu S.
europepmc   +1 more source

Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism. [PDF]

Mol Genet Genomic Med
Jiang B, Zhang H, Kan Y, Gao X, Du Z, Liu Q.   +5 more
europepmc   +1 more source

Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism.

Oman J Ophthalmol
Kumar N, Bazgain K, Singh SR, Katoch D.
europepmc   +1 more source

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Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Genes, 2021
Hwei Wuen Chan, Vijay K Tailor, Elena Schiff   +2 more
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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B

American Journal of Human Genetics, 2023
Stacie Loftus
exaly  

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population

Genes, 2023
Alexander InG, Brenda Bohnsack, Kevin X Zhang   +2 more
exaly