Hakutulokset - Deml, Brett

EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model Tekijä Deml, Brett, Reis, Linda M., Muheisen, Sanaa, Bick, David, Semina, Elena V.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways Tekijä Seese, Sarah E., Deml, Brett, Muheisen, Sanaa, Sorokina, Elena, Semina, Elena V.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia Tekijä Deml, Brett, Reis, Linda M., Maheshwari, Mohit, Griffis, Cristin, Bick, David, Semina, Elena V.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma Tekijä Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts Tekijä Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Identification of missense MAB21L1 variants in microphthalmia and aniridia Tekijä Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.

Hae kokoteksti Hae kokoteksti Hae kokoteksti