Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lu JT"'
Autor:
Cirulli ET; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA. liz.cirulli@helix.com., White S; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA., Read RW; Desert Research Institute, 2215 Raggio Pkwy, Reno, NV, 89512, USA.; Renown Institute of Health Innovation, Reno, NV, 89512, USA., Elhanan G; Desert Research Institute, 2215 Raggio Pkwy, Reno, NV, 89512, USA.; Renown Institute of Health Innovation, Reno, NV, 89512, USA., Metcalf WJ; Desert Research Institute, 2215 Raggio Pkwy, Reno, NV, 89512, USA.; Renown Institute of Health Innovation, Reno, NV, 89512, USA., Tanudjaja F; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA., Fath DM; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA., Sandoval E; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA., Isaksson M; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA., Schlauch KA; Desert Research Institute, 2215 Raggio Pkwy, Reno, NV, 89512, USA.; Renown Institute of Health Innovation, Reno, NV, 89512, USA., Grzymski JJ; Desert Research Institute, 2215 Raggio Pkwy, Reno, NV, 89512, USA.; Renown Institute of Health Innovation, Reno, NV, 89512, USA., Lu JT; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA., Washington NL; Helix, 101S Ellsworth Ave Suite 350, San Mateo, CA, 94401, USA.
Publikováno v:
Nature communications [Nat Commun] 2020 Jan 28; Vol. 11 (1), pp. 542. Date of Electronic Publication: 2020 Jan 28.
Autor:
Rajagopal A; Department of Molecular and Human Genetics (A.R., D.L., R.G., P.C., B.L.), Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE) (D.B., F.C., H.C., I.B.), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Human Genome Sequencing Center (J.T.L., R.G.), Department of Structural and Computational Biology and Molecular Biophysics (J.T.L.), Baylor College of Medicine, Houston, Texas 77030; Unidad de Metabolismo (S.K.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Unidad de Nefrología (J.M.L., G.V.), Hospital de Niños Ricardo Gutiérrez, C1425FD Buenos Aires, Argentina; Howard Hughes Medical Institute (B.L.), Houston, Texas 77030., Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2014 Nov; Vol. 99 (11), pp. E2451-6. Date of Electronic Publication: 2014 Jul 22.
Autor:
Campeau PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kasperaviciute D; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK., Lu JT; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kim C; Department of Pharmacology, Baylor College of Medicine, Houston, TX, USA., Hori M; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan., Powell BR; Children's Hospital Central California, Madera, California, USA., Stewart F; Genetics Service, Belfast City Hospital, Belfast, Ireland., Félix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre, Porto Alegre, Brazil., van den Ende J; Department of Medical Genetics, University Hospital Antwerp, 2650 Antwerp, Belgium., Wisniewska M; Department of Medical Genetics, Poznañ University of Medical Sciences, Poznañ, Poland., Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Turkey., Rump P; Department of Genetics, University of Groningen, Groningen, Netherlands., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Aftimos S; Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Auckland, New Zealand., Mey A; Pediatric Neurology, Braunschweig Hospital, Braunschweig, Germany., Nair LD; Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, Tamil Nadu, 600077, India., Begleiter ML; Division of Genetics, Children's Mercy Hospitals and Clinics and the University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., De Bie I; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Quebec, Canada., Meenakshi G; Department of Pediatrics, NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital, Maharashtra, India., Murray ML; University of Washington Medical Center, Seattle, WA, USA., Repetto GM; Center for Human Genetics, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile., Golabi M; Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Blair E; Department of Clinical Genetics, Churchill Hospital, Oxford, UK., Male A; Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Giuliano F; Centre Référence Anomalie Développement et Syndromes Malformatifs, Centre Hospitalier Universitaire de Nice, France., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Newman WG; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Bhaskar SS; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Dickerson JE; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Kerr B; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Wieczorek D; Institut für Humangenetik, University of Duisburg-Essen, University Hospital Essen, Essen, Germany., Tostevin A; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK., Wiszniewska J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hennekam RC; Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institutes, Houston, TX, USA. Electronic address: blee@bcm.edu., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK; Epilepsy Society, Buckinghamshire, UK. Electronic address: s.sisodiya@ucl.ac.uk.
Publikováno v:
The Lancet. Neurology [Lancet Neurol] 2014 Jan; Vol. 13 (1), pp. 44-58. Date of Electronic Publication: 2013 Nov 29.
Autor:
Campeau PM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2012 Nov 15; Vol. 21 (22), pp. 4904-9. Date of Electronic Publication: 2012 Aug 08.