Results 141 to 150 of about 5,505 (212)

Oculocutaneous albinism type 5 [PDF]

, 2020
openaire   +1 more source

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism. [PDF]

Invest Ophthalmol Vis Sci
Chen S, Yi Z, Zheng Y, Jiang Y, Guo D, Jia X, Li S, Xiao X, Zhang Q, Sun W.   +9 more
europepmc   +1 more source

Genome-wide linkage analysis of gene expression of loin muscle tissue identifies candidate genes in pigs. [PDF]

, 2011
BATES, R. O., CARDOSO, F. F., EDWARDS, D. B., ERNST, C. W., RAGAVENDRAM, A., RAMOS, A. M., RANEY, N. E., RILINGTON, V. D., ROSA, G. J. M., STEIBEL, J. P., TEMPELMAN, R. J.   +10 more
core  

Oculocutaneous albinism type 2 [PDF]

, 2020
openaire   +1 more source

Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia. [PDF]

Am J Case Rep
Alhomayin LA, Alharbi AR, Nadama AR, Cal JH, Paramasivam M.   +4 more
europepmc   +1 more source

Oculocutaneous albinism type 1B [PDF]

, 2020
openaire   +1 more source

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1). [PDF]

Invest Ophthalmol Vis Sci
Köller AF, Käsmann-Kellner B, Benseler F, Tschernig T, Löw U, Maxeiner S, Schwarz K, Brose N, Geerling G, Seitz B, Schmitz F.   +10 more
europepmc   +1 more source

Oculocutaneous albinism type 1A [PDF]

, 2020
openaire   +1 more source

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects. [PDF]

Invest Ophthalmol Vis Sci
George A, Pfister T, DeYoung C, Sharma R, Abu-Asab M, Zou J, Bharti K, Brooks BP.   +7 more
europepmc   +1 more source