Hasil Pencarian - Ghayda Mirzaa

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  1. 1
    Pulmonary Vein Stenosis Associated with Germline <i>PIK3CA</i> Mutation

    Pulmonary Vein Stenosis Associated with Germline <i>PIK3CA</i> Mutation oleh Delphine Yung, Kaitlyn Freeman, Ghayda Mirzaa

    Diterbitkan 2022-05-01
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  2. 2
    P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital

    P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital oleh Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Margaret Adam, Ian Glass, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Alexandra Keefe, Tara Wenger

    Diterbitkan 2024-01-01
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  3. 3
    P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yield

    P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yield oleh Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Margaret Adam, Ian Glass, Tara Wenger

    Diterbitkan 2024-01-01
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  4. 4
    P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants

    P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants oleh Jennifer Cech, Danny Miller, Cate Paschal, Bri Dingmann, Anna Scott, Jenny Thies, Maria Mills, J. Lawrence Merritt, II, Ghayda Mirzaa, James Bennett, Ian Glass, Darci Sternen, Heather Mefford

    Diterbitkan 2023-01-01
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  5. 5
    Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

    Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome oleh Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis

    Diterbitkan 2023-06-01
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  6. 6
    Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

    Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts oleh Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass

    Diterbitkan 2024-01-01
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