Hasil Pencarian - Luis Rohena

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  1. 1
    Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

    Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding oleh Julie Fischer, Luis Rohena

    Diterbitkan 2022-01-01
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  2. 2
    Case report: Novel phenotype in central 22q11.2 deletion syndrome

    Case report: Novel phenotype in central 22q11.2 deletion syndrome oleh Patrick Dideum, Luis Rohena, Janet Berg, Candace Percival

    Diterbitkan 2020-12-01
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  3. 3
    A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

    A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance oleh Cameron Elward, Janet Berg, John M. Oberlin, Luis Rohena

    Diterbitkan 2020-11-01
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  4. 4
    P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities

    P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities oleh Scott Ward, Lindsay Burrage, Jill Rosenfeld, Carlos Bacino, Brendan Lee, William Craigen, Lisa Emrick, Kristen Fisher, Alexandrea Wadley, Chun-Hui Tsai, Paul Benke, Maria Guillen Sacoto, Kimberly Glaser, David Murdock, Luis Rohena, K.E.M. Diderich, H.T. Bruggenwirth, Kimberly Houck

    Diterbitkan 2023-01-01
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  5. 5
    Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

    Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. oleh Gina M DeStefano, Mazen Kurban, Kwame Anyane-Yeboa, Claudia Dall'Armi, Gilbert Di Paolo, Heather Feenstra, Nanette Silverberg, Luis Rohena, Larissa D López-Cepeda, Vaidehi Jobanputra, Katherine A Fantauzzo, Maija Kiuru, Marija Tadin-Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C Salas-Alanis, Angela M Christiano

    Diterbitkan 2014-01-01
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