Resultados de búsqueda - Hosny, Heba

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  1. 1
    Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

    Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia por Ghosh, Shereen G., Breuss, Martin W., Schlachetzki, Zinayida, Chai, Guoliang, Ross, Danica, Stanley, Valentina, Sonmez, F. Mujgan, Topaloglu, Haluk, Zaki, Maha S., Hosny, Heba, Gad, Shaimaa, Gleeson, Joseph G.

    Publicado 2021
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    RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

    RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability por Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza

    Publicado 2020
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