Søgeresultater - Hanan H. Afifi

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  1. 1
    The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

    The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration af Ghada M. H. Abdel‐Salam, Michaela Thoenes, Hanan H. Afifi, Friederike Körber, Daniel Swan, Hanno J. Bolz

    Udgivet 2014
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    Artigo
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  2. 2
    A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

    A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) af Ghada M. H. Abdel‐Salam, Ashleigh E. Schaffer, Maha S. Zaki, Tracy Dixon‐Salazar, Inas S. Mostafa, Hanan H. Afifi, Joseph G. Gleeson

    Udgivet 2012
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    Artigo
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  3. 3
    Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

    Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism af Ranad Shaheen, Ghada M. H. Abdel‐Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel‐Hamid, Hanan H. Afifi, Samira Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

    Udgivet 2015
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    Artigo
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  4. 4
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome af Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch

    Udgivet 2013
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    Artigo
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