Results 111 to 120 of about 1,054 (135)

Bilateral Symmetrical Upper Lid Coloboma: A Case Report

Journal of Pediatric Ophthalmology & Strabismus, 1974
Sandor Bolcs, Erzsebet Trux
openaire   +1 more source

Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome

Clinical Genetics, 1998
Sevim Bulci, Aycan Kayikcioglu, A Safek Dugli   +2 more
openaire   +1 more source

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Genes, 2021
Patricia Haug, Samuel Koller, Jordi Maggi   +2 more
exaly  

Bilateral Congenital Coloboma of Upper Lids

American Journal of Ophthalmology, 1943
openaire   +1 more source

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma

British Journal of Ophthalmology, 2023
Philippa Harding, Mariya Moosajee
exaly  

The genetic architecture of microphthalmia, anophthalmia and coloboma

European Journal of Medical Genetics, 2014
Kathleen A Williamson, David R Fitzpatrick   +1 more
exaly  

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Proceedings of the National Academy of Sciences of the United States of America, 2015
Ivan Conte, Annamaria Carissimo, Marianthi Karali   +2 more
exaly  

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

Human Mutation, 2012
Pierre Cochat, Marni J Falk, Rajiv Kumar
exaly  

Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis

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

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

European Journal of Human Genetics, 2015
Ariana Kariminejad, Elena V Semina
exaly