Search Results - Alrohaif, H.

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  1. 1
    Expansion of the Gene Ontology knowledgebase and resources

    Expansion of the Gene Ontology knowledgebase and resources

    Published in Nucleic acids research
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  2. 2
    O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

    O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects by Roos, A., van der Ven, P., Alrohaif, H., Kölbel, H., Heil, L., Della Marina, A., Weis, J., Töpf, A., Vorgerd, M., Schara-Schmidt, U., Gangfuss, A., Evangelista, T., Hentschel, A., Grüneboom, A., Fuerst, D., Kuechler, A., Tzschach, A., Depienne, C., Lochmüller, H.

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  3. 3
    7096 Variants in WASHC3, a component of the WASH complex, cause distinctive facial dysmorphism, short stature, and variable neurodevelopmental abnormalities

    7096 Variants in WASHC3, a component of the WASH complex, cause distinctive facial dysmorphism, short stature, and variable neurodevelopmental abnormalities by Jee, Y, Lui, J, Marafi, D, Xia, Z J, Bhatia, R, Zhou, E, Herman, I, Temnycky, A G, Whalen, P, Elliot, G, Leschek, E, Wijngaard, R, Beek, R, Vreugd, A, De Vries, M, Karnebeek, C, Oud, M, Markello, T, Barnes, K, Alrohaif, H, Freeze, H H, Gahl, W, Malicdan, M, Posey, J, Lupski, J, Baron, J

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  4. 4
    GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

    GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description by Alrohaif, Hadil, Pogoryelova, Oksana, Al‐Ajmi, Abdullah, Aljeryan, Lulwa A., Alrashidi, Nuwayer H., Alefasi, Sara A., Urtizberea, Andoni, Lochmüller, Hanns, Bastaki, Laila

    Published in Muscle & nerve
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