Results 111 to 120 of about 2,978 (164)

A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry. [PDF]

Sci Rep
Abbatangelo CL, Durazo FL, Edwards M, Parra EJ.   +3 more
europepmc   +1 more source

Trichilemmal Carcinoma in a Patient With Oculocutaneous Albinism. [PDF]

Cureus
Theriot T, Joseph JM, Falgout L, Haas C.
europepmc   +1 more source

Generation and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing. [PDF]

Sci Rep
Oh D, Seok C, Park HW, Park S, Lee J, Choi H, Jawad A, Ham J, Jang H, Lee SC, Oh BC, Moon C, Park KH, Hyun SH, Kim D.   +14 more
europepmc   +1 more source

Amelanotic Melanoma in Oculocutaneous Albinism: Clinical Presentation and Diagnostic Pitfalls with Dermoscopic-Histopathological Correlation. [PDF]

Dermatol Pract Concept
Gioco D, Girolami I, Inchaurraga MAG, Massone C, Sola S, Pizzichetta MA.   +5 more
europepmc   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

A human rights-based analysis of the experiences and challenges faced by children with albinism and their mothers: Insights from the African film 'Can You See Us?' [PDF]

Afr J Disabil
Vengesai P, Mswela M.
europepmc   +1 more source

Specialised features of melanosomes in health and disease in the retinal pigment epithelium. [PDF]

Front Cell Dev Biol
Doncheva D, Eden ER, Futter CE.
europepmc   +1 more source

Retinal Pigment Epithelium-Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I. [PDF]

MedComm (2020)
Song L, Ren C, Luo M, Su J, Jin X, Fu J, Xu Q, Wu X, Liu F, Ye Q, Hu M, Liu M, Li Q, An Y, Li M, Wang Q, She K, Lu F, Yang Y.   +18 more
europepmc   +1 more source