Results 191 to 200 of about 3,282 (209)

Bilateral macular colobomas.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 1996
S, Sharma, A, Naqvi, A F, Cruess
openaire   +1 more source

Renal-coloboma syndrome: a multi-system developmental disorder caused byPAX2mutations

Clinical Genetics, 1999
Lisa A Schimmenti
exaly  

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human Mutation, 2012
Pierre Cochat, Stephane Decramer, Marni J Falk   +2 more
exaly  

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Ophthalmic Epidemiology, 2016
Karen Grønskov, René Holst, Zeynep Tumer   +2 more
exaly  

High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma

Human Mutation, 2020
Vijay K Kalaskar, Leeann K Li, James W Thomas   +2 more
exaly  

[Histopathology of congenital macular coloboma].

Nippon Ganka Gakkai zasshi, 1986
T, Kono, S, Kurimoto, T, Kono, H, Inomata   +3 more
openaire   +1 more source

Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis

Cell Research, 2012
Shuyi Chen, Chuxia Deng, Yasuhide Furuta
exaly  

CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS

Lancet, The, 1965
exaly  

Ocular coloboma

Survey of Ophthalmology, 1981
exaly  

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Birth Defects Research Part C: Embryo Today Reviews, 2015
Elena V Semina
exaly