Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Beaver EM"'
Autor:
Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT
Publikováno v:
GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718
Autor:
Kim AB; Department of Architecture, University of California, Berkeley, Berkeley, California., Beaver EM; Department of Psychology, Michigan State University, East Lansing, Michigan., Collins SG; Department of Psychology, Michigan State University, East Lansing, Michigan., Kriegsfeld LJ; Department of Psychology, University of California, Berkeley, Berkeley, California.; Department of Integrative Biology, University of California, Berkeley, Berkeley, California.; The Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, California., Lockley SW; Division of Sleep and Circadian Disorders, Departments of Medicine and Neurology, Brigham and Women's Hospital, Boston, Massachusetts.; Division of Sleep Medicine, Harvard Medical School, Boston, Massachusetts., Wong KY; Department of Ophthalmology & Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.; Department of Molecular, Cellular & Developmental Biology, University of Michigan, Ann Arbor, Michigan., Yan L; Department of Psychology, Michigan State University, East Lansing, Michigan.; Neuroscience Program, Michigan State University, East Lansing, Michigan.
Publikováno v:
Journal of biological rhythms [J Biol Rhythms] 2023 Aug; Vol. 38 (4), pp. 366-378. Date of Electronic Publication: 2023 May 24.
Autor:
Baumann M; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Beaver EM; Mercy Kids Genetics, Mercy Children's Hospital St. Louis, St. Louis, Missouri., Palomares-Bralo M; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain., Santos-Simarro F; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain., Holzer P; Intelligent Predictive Networks GmbH, Vienna, Austria., Povysil G; Institute of Bioinformatics, Johannes Kepler University, Linz, Austria., Müller T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Valovka T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Publikováno v:
Human mutation [Hum Mutat] 2020 Apr; Vol. 41 (4), pp. 753-758. Date of Electronic Publication: 2020 Jan 16.