Search Results - Albarry, Maan Abdullah

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  1. 1
    Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

    Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant by Albarry, Maan Abdullah, Latif, Muhammad, Alreheli, Ahdab Qasem, Awadh, Mohammed A, Almatrafi, Ahmad M, Albalawi, Alia M, Basit, Sulman

    Published in PloS one
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  2. 2
    Incremental Concentrations of Tacrolimus Eye Drops as a Strategy for the Management of Severe Vernal Keratoconjunctivitis

    Incremental Concentrations of Tacrolimus Eye Drops as a Strategy for the Management of Severe Vernal Keratoconjunctivitis by Albarry, Maan Abdullah, Parekh, Mohit, Ferrari, Stefano, Eltahir, Heba Mahmoud, Shehata, Ahmed M, Shaker, Mohamed A, Elbadawy, Hossein Mostafa

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  3. 3
    Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

    Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa by Hashmi, Jamil Amjad, Albarry, Maan Abdullah, Almatrafi, Ahmed M., Albalawi, Alia M., Mahmood, Amer, Basit, Sulman

    Published in Congenital anomalies
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  4. 4
    Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

    Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients by Albarry, Maan Abdullah, Hashmi, Jamil Amjad, Alreheli, Ahdab Qasem, Albalawi, Alia M, Khan, Bushra, Ramzan, Khushnooda, Basit, Sulman

    Published in Ophthalmic genetics
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  5. 5
    Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

    Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II by Albarry, Maan Abdullah, Alreheli, Ahdab Qasem, Albalawi, Alia M., Basit, Sulman

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  6. 6
    Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

    Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients by Albarry, Maan Abdullah, Hashmi, Jamil Amjad, Alreheli, Ahdab Qasem, Albalawi, Alia M., Khan, Bushra, Ramzan, Khushnooda, Basit, Sulman

    Published in Ophthalmic Genetics
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