Risultati della ricerca - Biesecker Leslie G

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research di Facio Flavia M, Sapp Julie C, Linn Amy, Biesecker Leslie G

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Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes di Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G

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Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the <it>EVC </it>gene di Cockerham John, Sapp Julie C, Gül Davut, Ulucan Hakan, Johnston Jennifer J, Biesecker Leslie G

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Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS) di Johnston Jennifer, Brinckman Danielle, Sapp Julie C, Blumhorst Catherine, Keppler-Noreuil Kim M, Nopoulos Peggy C, Biesecker Leslie G

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