Zobrazeno 1 - 10
of 2 881
pro vyhledávání: '"Kelley RI"'
Autor:
Golomb BA; Department of Medicine, University of California, San Diego, La Jolla, 92093, CA, U.S.A.. bgolomb@ucsd.edu., Kelley RI; Department of Genetics and Genomics, Boston Children's Hospital, 02115, Boston, MA, U.S.A., Han JH; Department of Medicine, University of California, San Diego, La Jolla, 92093, CA, U.S.A., Miller B; Department of Medicine, University of California, San Diego, La Jolla, 92093, CA, U.S.A., Bui L; Department of Medicine, University of California, San Diego, La Jolla, 92093, CA, U.S.A.; Department of Obstetrics and Gynecology, Santa Clara Valley Medical Center, 95128, San Jose, CA, U.S.A.
Publikováno v:
BMC research notes [BMC Res Notes] 2024 Aug 21; Vol. 17 (1), pp. 230. Date of Electronic Publication: 2024 Aug 21.
Autor:
Shackleton, Cedric H.L., Marcos, Josep, Palomaki, Glenn E., Craig, Wendy Y., Kelley, Richard I., Kratz, Lisa E., Haddow, James E.
Publikováno v:
American Journal of Medical Genetics. Part A; September 2007, Vol. 143 Issue: 18 p2129-2136, 8p
Publikováno v:
American Journal of Medical Genetics. 84:387-387
Autor:
Tierney, Elaine, Bukelis, Irena, Thompson, Richard E., Ahmed, Khalid, Aneja, Alka, Kratz, Lisa, Kelley, Richard I.
Publikováno v:
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; September 2006, Vol. 141 Issue: 6 p666-668, 3p
Publikováno v:
American Journal of Medical Genetics. Part A; 4 June 1999, Vol. 84 Issue: 4 p387-387, 1p
Autor:
Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, MJ, Miró, X, White, JK, Désir, J, Abramowicz, M, Dentici, ML, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, NA, Estabel, J, Gerdin, AKB, Podrini, C, Ingham, NJ, Altmüller, J, Nürnberg, G, Frommolt, P, Abdelhak, S, Pasmanik-Chor, M, Konen, O, Kelley, RI, Shohat, M, Nürnberg, P, Flint, J, Steel, KP, Hoppe, T, Kubisch, C, Adams, DJ, Borck, G
Publikováno v:
American journal of human genetics, 91 (6
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (6), pp.998-1010. ⟨10.1016/j.ajhg.2012.10.011⟩
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (6), pp.998-1010. ⟨10.1016/j.ajhg.2012.10.011⟩
Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known a
Autor:
Vanderniet JA; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, NSW, Australia., Benitez-Aguirre PZ; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia., Broderick CR; Children's Hospital Institute of Sports Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia.; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia., Kelley RI; Department of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Apr 13; Vol. 34 (7), pp. 951-955. Date of Electronic Publication: 2021 Apr 13 (Print Publication: 2021).
Autor:
Golomb BA; Department of Medicine, School of Medicine, University of California, San Diego, CA 92093-0995, USA., Koslik HJ; Department of Medicine, School of Medicine, University of California, San Diego, CA 92093-0995, USA., Han JH; Department of Medicine, School of Medicine, University of California, San Diego, CA 92093-0995, USA., Preger Guida AH; Department of Medicine, School of Medicine, University of California, San Diego, CA 92093-0995, USA., Hamilton G; Department of Radiology, University of California, San Diego, CA 92093-0995, USA., Kelley RI; Department of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Publikováno v:
International journal of environmental research and public health [Int J Environ Res Public Health] 2021 Feb 09; Vol. 18 (4). Date of Electronic Publication: 2021 Feb 09.
Autor:
Kelley RI; UC Berkeley - UC San Francisco Joint Medical Program, University of California , Berkeley, CA, USA., Ivey SL; UC Berkeley - UC San Francisco Joint Medical Program and School of Public Health, University of California , Berkeley, CA, USA., Silver K; Department of Environmental Health, East Tennessee State University , Johnson City, TN, USA., Holmes SM; Department of Environmental Science, Policy, and Management and Joint Program in Medical Anthropology, University of California , Berkeley, CA, USA.; Department of Anthropology, History and Social Medicine, School of Medicine, University of California , San Francisco, CA, USA.; Department of Medicine, Alameda County Medical Center , Oakland, CA, USA.
Publikováno v:
Journal of agromedicine [J Agromedicine] 2020 Jul; Vol. 25 (3), pp. 286-301. Date of Electronic Publication: 2020 Feb 29.
Autor:
Jagadisan B; Paediatric Liver GI and Nutrition Centre and Mowat Labs, King's College Hospital, London, UK., Dhawan A; Paediatric Liver GI and Nutrition Centre and Mowat Labs, King's College Hospital, London, UK.
Publikováno v:
Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2024 Sep; Vol. 79 (3), pp. 485-494. Date of Electronic Publication: 2024 Jul 28.