Zobrazeno 1 - 2
of 2
pro vyhledávání: '"thickened helices"'
Autor:
Kirsten E, Craddock, Volkan, Okur, Ashley, Wilson, Erica H, Gerkes, Keri, Ramsey, Jennifer M, Heeley, Jane, Juusola, Antonio, Vitobello, Marie-Noelle Bonnet, Dupeyron, Laurence, Faivre, Wendy K, Chung
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Heterozygous deleterious variants in PHIP have been associated with behavioral problems, intellectual disability/developmental delay, obesity/overweight, and dysmorphic features (BIDOD syndrome). We report an additional 10 individuals with pleckstrin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2cd2a9ed6f095aa34ff52d4eba439686
https://pubmed.ncbi.nlm.nih.gov/31167805
https://pubmed.ncbi.nlm.nih.gov/31167805
Autor:
Craddock KE; Vagelos College of Physicians and Surgeons, New York, New York 10032, USA., Okur V; Department of Pediatrics, Columbia University, New York, New York 10032, USA., Wilson A; Department of Pediatrics, Columbia University, New York, New York 10032, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, 9713 D2, Netherlands., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona 85012, USA., Heeley JM; Mercy Clinic-Kids Genetics, Mercy Children's Hospital, St. Louis, Missouri 63141, USA., Juusola J; GeneDx, Gaithersburg, Maryland, 20877, USA., Vitobello A; Centre de Reference Anomalies of the Developpement et Syndromes Malformatifs, Dijon University Hospital, Dijon, 21079, France., Dupeyron MB; Hospital of Valence, Genetic Consultations, Valence, 26000, France., Faivre L; Centre de Reference Anomalies of the Developpement et Syndromes Malformatifs, Dijon University Hospital, Dijon, 21079, France., Chung WK; Department of Pediatrics, Columbia University, New York, New York 10032, USA.; Department of Medicine, Columbia University, New York, New York 10032, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Aug 01; Vol. 5 (4). Date of Electronic Publication: 2019 Aug 01 (Print Publication: 2019).