Search Results - Daniel Groepper

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  1. 1

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

    Published in Genetics in Medicine Open (2024-01-01)
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  2. 2

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

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

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

    Published in Genetics in Medicine Open (2024-01-01)
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  4. 4

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

    Published in Genetics in Medicine Open (2023-01-01)
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  5. 5

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

    Published in Genetics in Medicine Open (2024-01-01)
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  6. 6

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

    Published in Genetics in Medicine Open (2025-01-01)
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  7. 7

    Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome. by 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

    Published in PLoS Genetics (2022-12-01)
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