Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Yaurama Perdomo
Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Related publications
Oculocutaneous Albinism Type 1
Molecular Basis of Oculocutaneous Albinism Type 1 in Lebanese Patients
Journal of Human Genetics
Genetics
Minimal Pigment Oculocutaneous Albinism Type 1
Oculocutaneous Albinism Type 1A
Oculocutaneous Albinism Type 6
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
American Journal of Human Genetics
Genetics
Mutations in the Human Orthologue of the Mouse Underwhite Gene (Uw) Underlie a New Form of Oculocutaneous Albinism, OCA4
American Journal of Human Genetics
Genetics
A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Annals of Pediatric Endocrinology and Metabolism
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
Hematology