Results 191 to 200 of about 6,439 (248)

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

, 1991
Chaya Chintamaneni, Ruth Halaban, Yvonne M. Kobayashi, Carl J. Witkop, Byoung S. Kwon   +4 more
openalex   +1 more source

Oculocutaneous albinism type 2 [PDF]

, 2020
openaire   +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  

MOESM1 of Retrospective analysis in oculocutaneous albinism patients for the 2.7Â kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

, 2017
Jackson Gao, Leera D’Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David Glade Adams, Santa J. Tumminia, Xinjing Wang   +7 more
openalex   +1 more source

Oculocutaneous albinism type 1A [PDF]

, 2020
openaire   +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

Living with Albinism: Stories from Malawi May 2013 [PDF]

, 2013
Chimodzi, V., Kassim, I., Lund, Patricia, Machinjiri, E., Massah, F., Mnandi, E., Simbota, I.D., Thelele, M.   +7 more
core  

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

Oculocutaneous albinism : from identification of new pathogenic variants to characterisation of pathophysiological mechanisms

Elina Mercier
openalex   +1 more source