Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Butler, Megan W."'
Autor:
Yu, Elizabeth L., You, Hyeri, Rudolph, Bryan, Panganiban, Jennifer A., Kohut, Taisa J., Lin, Henry C., Fifi, Amanda C., Budhathoki, Rasmita, Butler, Megan W., Anderson, Sabina R., Goyal, Nidhi P., Newton, Kimberly P., Schwimmer, Jeffrey B.
Publikováno v:
JPGN Reports; Aug2024, Vol. 5 Issue 3, p317-325, 9p
Autor:
Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM
Publikováno v:
Cold Spring Harbor molecular case studies, vol 4, iss 5
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c3a7168ce4b7d9f2cad7be1716b143d7
https://escholarship.org/uc/item/0x70z6sn
https://escholarship.org/uc/item/0x70z6sn
Akademický článek
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Autor:
Butler, Megan W.1, Burt, Amber2, Edwards, Todd L.2,3, Zuchner, Stephan2, Scott, William K.2, Martin, Eden R.2, Vance, Jeffery M.2, Wang, Liyong2
Publikováno v:
Annals of Human Genetics. Mar2011, Vol. 75 Issue 2, p201-210. 10p.
Autor:
Tan QK; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., Cope H; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., Stong N; Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA., Jiang YH; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., McDonald MT; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., Rothman JA; Department of Pediatrics, Division of Hematology-Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA., Butler MW; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, Duke University Medical Center, Durham, North Carolina 27710, USA., Frush DP; Department of Radiology, Division of Pediatric Radiology, Duke University Medical Center, Durham, North Carolina 27710, USA., Lachman RS; Cedars-Sinai Medical Center, International Skeletal Dysplasia Registry, Los Angeles, California 90048, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Bonner MJ; Department of Psychiatry and Behavioral Sciences, Division of Child and Family Mental Health and Developmental Neuroscience, Duke University Medical Center, Durham, North Carolina 27710, USA., McCall CM; Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA., Pendse AA; Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA., Walley N; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA., Pena LDM; Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Oct 01; Vol. 4 (5). Date of Electronic Publication: 2018 Oct 01 (Print Publication: 2018).