Hasil Pencarian - Adnan Issa Al-Badran

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  1. 1
    Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2

    Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2 oleh Mostafa Neissi, Adnan Issa Al-Badran

    Diterbitkan 2023-06-01
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  2. 2
    Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

    Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report oleh Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl

    Diterbitkan 2022-01-01
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  3. 3
    A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report

    A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report oleh Mostafa Neissi, Motahareh Sheikh-Hosseini, Javad Mohammadi-Asl, Adnan Issa Al-Badran

    Diterbitkan 2022-03-01
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  4. 4
    Mutation Detection in MYO15A Gene in an Iranian Family with Non-Syndromic Hearing Loss

    Mutation Detection in MYO15A Gene in an Iranian Family with Non-Syndromic Hearing Loss oleh Mostafa Neissi, Misagh Mohammadi-Asl, Mojdeh Roghani, Adnan Issa Al-Badran, Javad Mohammadi-Asl

    Diterbitkan 2024-03-01
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  5. 5
    Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report

    Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report oleh Raed Abdulelah Al-Badran, Adnan Issa Al-Badran, Hadideh Mabudi, Mostafa Neissi, Javad Mohammadi-Asl

    Diterbitkan 2022-03-01
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  6. 6
    A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family

    A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family oleh Mostafa Neissi, Hadideh Mabudi, Adnan Issa Al-Badran, Javad Mohammadi-Asl, Raed Abdulelah Al-Badran

    Diterbitkan 2023-03-01
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  7. 7
    A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report

    A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report oleh Mehdi Hashemipour, Mostafa Neissi, Mahsa Rashid, Karim Sevari, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran

    Diterbitkan 2024-09-01
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  8. 8
    Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene

    Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene oleh Mostafa Neissi, Javad Mohammadi-Asl, Misagh Mohammadi-Asl, Mojdeh Roghani, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran

    Diterbitkan 2024-06-01
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  9. 9
    Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

    Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant oleh Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl

    Diterbitkan 2024-07-01
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