Resultados da pesquisa - Daniel Groepper

P281: Atypical maternally inherited CDKN1C variant causing IMAGe syndrome in a newborn Por Daniel Groepper, Julie Fleischer, Jacqueline Lyman

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P295: Detection of copy number variants by chromosome microarray vs exome sequencing at a single clinic over an eight year period Por Kara Skorge, Daniel Groepper, Julie Fleischer

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P110: Case report of APC promoter 1B deletion associated with classic FAP Por Mary O'Connor, Daniel Groepper, Julie Fleischer

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P342: Broadening the phenotype of ABL1-associated disorder Por Christopher Vincent, Daniel Groepper, Lamya Mubayed, Julie Fleischer

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P239: Mosaic trisomy 17 and tetraploidy: A case report Por Zach Ryder, Daniel Groepper, Fiyinfoluwa Soluade, Henry Adekola, Morgan Schriever, Julie Fleischer

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An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes Por Lauren Boucher, Berkley Nestler, Daniel Groepper, John Quillin, David Deyle, Colin M.E. Halverson

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Pharmacokinetic modeling of an induction regimen for in vivo combined testing of novel drugs against pediatric acute lymphoblastic leukemia xenografts. Por Barbara Szymanska, Urszula Wilczynska-Kalak, Min H Kang, Natalia L M Liem, Hernan Carol, Ingrid Boehm, Daniel Groepper, C Patrick Reynolds, Clinton F Stewart, Richard B Lock

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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. Por Sarah R Poll, Renan Martin, Elizabeth Wohler, Elizabeth S Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa Kratz, Mirlene Cernach, Reynaldo Jesus-Garcia, Chad Haldeman-Englert, Yoon Jae Choi, Carol D Morris, Bernard Cohen, Julie Hoover-Fong, David Valle, Gregg L Semenza, Nara L M Sobreira

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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders Por Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

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