Search Results - Deml, Brett

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  1. 1
    EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model

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

    Published 2015
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  2. 2
    Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways

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

    Published 2021
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  3. 3
    Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

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

    Published 2014
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  4. 4
    Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

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

    Published 2016
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  5. 5
    Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

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

    Published 2015
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  6. 6
    Identification of missense MAB21L1 variants in microphthalmia and aniridia

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

    Published 2021
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