Search Results - Otaify, G.

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  1. 1
    PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation

    PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation by Abdel‐Hamid, M.S., Issa, M.Y., Otaify, G.A., Abdel‐Ghafar, S.F., Elbendary, H.M., Zaki, M.S.

    Published in Clinical genetics
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  2. 2
    Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect

    Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect by Otaify, G. A., Abdel-Hamid, M. S., Mehrez, M. I., Aboul-Ezz, E., Zaki, M. S., Aglan, M. S., Temtamy, S. A.

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  3. 3
    Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study

    Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study by Otaify, G. A., Aglan, M. S., Ibrahim, M. M., Elnashar, M., El Banna, R. A. S., Temtamy, S. A.

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  4. 4
    NEW GENES AND DISEASES

    NEW GENES AND DISEASES by Yoon, G., Estañ, M., Fernandez-Nuñez, E., Zak, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, J., Saade, D., Hu, Y., Bolduc, V., Chao, K., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Ruiz-Perez, V.

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  5. 5
    NEW GENES AND DISEASES: O.17Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    NEW GENES AND DISEASES: O.17Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy by Yoon, G., Estañ, M., Fernandez-Nuñez, E., Zak, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, J., Saade, D., Hu, Y., Bolduc, V., Chao, K., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Ruiz-Perez, V.

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  6. 6
    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy by Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.

    Published in Nature communications
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