نتائج البحث - Sandra Darilek

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  1. 1
    Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

    Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis حسب Lauren Westerfield, Sandra Darilek, Ignatia Van den Veyver

    منشور في 2014
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    Revisão
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  2. 2
    Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

    Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genet... حسب J.S. Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine Akkari, Kristin G. Monaghan, Angelika Erwin, Robert G. Best

    منشور في 2022
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    Artigo
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  3. 3
    Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

    Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases حسب Ignatia B. Van den Veyver, Ankita Patel, Chad A. Shaw, Amber N. Pursley, Sung‐Hae Kang, Marcia J. Simovich, Patricia A. Ward, Sandra Darilek, Anthony E. Johnson, Sarah E. Neill, Weimin Bi, Lisa D. White, Christine M. Eng, James R. Lupski, Sau Wai Cheung, Arthur L. Beaudet

    منشور في 2008
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    Artigo
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  4. 4
    Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

    Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization حسب Trilochan Sahoo, Sau Wai Cheung, Patricia A. Ward, Sandra Darilek, Ankita Patel, Daniela del Gaudio, Sung Hae L. Kang, Seema R. Lalani, Jiangzhen Li, Sallie McAdoo, Audrey Burke, Chad A. Shaw, Paweł Stankiewicz, A. Craig Chinault, Ignatia B. Van den Veyver, Benjamin B. Roa, Arthur L. Beaudet, Christine M. Eng

    منشور في 2006
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    Artigo
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  5. 5
    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females

    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females حسب Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Yılmaz Güleç, Yunyun Jiang, Sandra Darilek, Adam Hansen, Michael M. Khayat, Davut Pehli̇van, Juliette Piard, Donna M. Muzny, Neil A. Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Adekunle M. Adesina, Shan Chen, Yi‐Chien Lee, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti

    منشور في 2018
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    Artigo
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  6. 6
    The sixth international RASopathies symposium: Precision medicine—From promise to practice

    The sixth international RASopathies symposium: Precision medicine—From promise to practice حسب Karen W. Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M. Bennett, Susan Blasér, Amanda Brown, Rebecca D. Burdine, Emma Burkitt‐Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D. Gelb, Tamar Green, Andrea M. Gross, A.Y. Ho, James Lloyd Holder, Shinichi Inoue, Angie C. Jelin, Annie Kennedy, Richard C. Klein, Maria I. Kontaridis, Pilar Magoulas, Darryl B. McConnell, Frank McCormick, Benjamin G. Neel, Carlos E. Prada, Katherine A. Rauen, Amy E. Roberts, Pablo Rodriguez‐Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Šolman, Marco Tartaglia, Angelica Thomas, William C. Timmer, Kartik Venkatachalam, Karin S. Walsh, Pamela L. Wolters, Jae‐Sung Yi, Martin Zenker, Nancy Ratner

    منشور في 2019
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    Artigo
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