Kết quả tìm kiếm - Sandra Darilek
- Đang hiển thị 1 - 6 kết quả của 6
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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... Bằng J.S. Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine Akkari, Kristin G. Monaghan, Angelika Erwin, Robert G. Best
Được phát hành 2022Artigo -
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases Bằng 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
Được phát hành 2008Artigo -
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization Bằng 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
Được phát hành 2006Artigo -
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Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females Bằng 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
Được phát hành 2018Artigo -
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The sixth international RASopathies symposium: Precision medicine—From promise to practice Bằng 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
Được phát hành 2019Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Medicine
Fetus
Pregnancy
Prenatal diagnosis
Bioinformatics
Internal medicine
Obstetrics
Pathology
Chorionic villi
Chromosome
Comparative genomic hybridization
Copy-number variation
Genome
Karyotype
Medical genetics
Phenotype
Advanced maternal age
Amniocentesis
Amniotic fluid
Chorionic villus sampling
Clinical phenotype
Clinical significance
Clinical trial
Computer network
Computer science
Concordance
Context (archaeology)