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

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

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A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss von Neissi, Mostafa, Al-Badran, Adnan Issa, Mohammadi-Asl, Javad

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Unveiling a Novel THOC2 Mutation's Role in X-linked Intellectual Disability von Mehdi Hashemipour, Ayad Neissi, Mostafa Neissi, Misagh Mohammadi-Asl, Motahareh Sheikh-Hosseini, Sasan Bavi, Mojdeh Roghani, Javad Mohammadi-Asl

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Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation von Neissi, Mostafa, Sheikh‐Hosseini, Motahareh, Mohammadi‐Asl, Javad

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

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A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report von Neissi, Mostafa, Sheikh-Hosseini, Motahareh, Mohammadi-Asl, Javad

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

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AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report von Neissi, Mostafa, Mabudi, Hadideh, Mohammadi‐Asl, Javad

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

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

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A novel heterozygous TPM2 gene mutation in an Iranian family affected by distal arthrogryposis type 1: a case report von Neissi, Mostafa, Sheikh-Hosseini, Motahareh, Mohammadi-Asl, Javad, Al-Badran, Adnan Issa

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Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9 von Neissi, Mostafa, Sheikh‐Hosseini, Motahareh, Mohammadi‐Asl, Misagh, Al‐Badran, Adnan Issa, Roghani, Mojdeh, Mohammadi‐Asl, Javad, Jorfi, Kamele

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

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

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Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss von Mohammadi-Asl, Javad, Saki, Nader, Dehdashtiyan, Masoud, Neissi, Mostafa, Ghanbari Mardasi, Farideh

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Homozygous LOXHD1 Nonsense Mutation (c.1787G>A; p.W596X) is Associated with Hearing Loss in an Iranian Family: A Case Report von Neissi, Mostafa, Abdulzahra, Husham, Sheikh-Hosseini, Motahareh, Mabudi, Hadideh, Mohammadi-Asl, Javad, Al-Badran, Raed

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Exome Sequencing Identifies a Novel SGCA Gene Mutation in an Iranian Family with Limb Girdle Muscular Dystrophy: A Case Report von Khajeh, Safieh, Mohammadi Asl, Javad, Kazemi, Hashem, Neissi, Mostafa, Khoshnood, Zahra

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Homozygous AHI1 gene mutation (c.1213A>C; Thr405Pro) leads to Joubert syndrome in a consanguineous Iranian family: A case report von Neissi, Mostafa, Issa Al-Badran, Adnan, Mohammadi-Asl, Javad

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Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis von Neissi, Mostafa, Misagh Mohammadi-Asl, Mojdeh Roghani, Issa Al-Badran, Adnan, Motahareh Sheikh-Hosseini, Mohammadi-Asl, Javad

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