Zobrazeno 1 - 10
of 504
pro vyhledávání: '"Urion DK"'
Autor:
Tan S; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhan R; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Luo S; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Han Y; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Yu B; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Muss C; Department of Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Pingault V; Service de Médecine Génomique des maladies rares, AP-HP, Hôpital Necker; Université Paris Cité, Inserm, Institut Imagine; and Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Marlin S; Centre de Référence «Surdités Génétiques», Fédération de Génétique; Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France., Delahaye A; Service de Médecine Génomique des maladies rares, AP-HP, Hôpital Necker; Université Paris Cité, Inserm, Institut Imagine; and Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Peters S; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Perne C; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Kreiß M; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Spataro N; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Trujillo-Quintero JP; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Racine C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran-Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA., Besterman AD; Department of Psychiatry, University of California San Diego School of Medicine, La Jolla, CA, USA.; Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Martinez J; Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Wang X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Tian X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, MA, USA., Urion DK; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, MA, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Saif HA; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Virginia Commonwealth, Richmond, VA, USA., Morrow MM; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Li X; Departments of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China., Jurgensmeyer S; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA., Leahy P; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA., Zhou S; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Li F; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Hu Z; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Tan J; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China. xiakun@sklmg.edu.cn.; MOE Key Lab of Rare Pediatric Diseases, School of Basic Medicine, Hengyang Medical College, University of South China, Hengyang, Hunan, China. xiakun@sklmg.edu.cn.; Furong Laboratory, Changsha, Hunan, China. xiakun@sklmg.edu.cn., Guo H; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China. guohui@sklmg.edu.cn.; Furong Laboratory, Changsha, Hunan, China. guohui@sklmg.edu.cn.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2024 Oct 29. Date of Electronic Publication: 2024 Oct 29.
Autor:
Urion DK; Charles F. Barlow Chair, Director of Education, Department of Neurology, Senior Associate in Ethics, Boston Children's Hospital, Boston, Massachusetts. Electronic address: david.urion@childrens.harvard.edu., Cabello JF; Director of Child Neurology Fellowship, Universidad de Valparaiso, Valparaiso, Chile., Salinas R; Department of Neurology, Universidad de Chile, Santiago, Chile.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Sep 27; Vol. 161, pp. 227-228. Date of Electronic Publication: 2024 Sep 27.
Autor:
LaRovere KL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115, USA. kerri.larovere@childrens.harvard.edu., De Souza BJ; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Szuch E; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Urion DK; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115, USA., Vitali SH; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115, USA., Graham RJ; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Geva A; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA., Tasker RC; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Publikováno v:
Neurocritical care [Neurocrit Care] 2022 Jun; Vol. 36 (3), pp. 715-726. Date of Electronic Publication: 2021 Dec 10.
Publikováno v:
Rhode Island Medical Journal. Nov2024, Vol. 107 Issue 11, p10-13. 4p.
Autor:
Poyatos-García, Javier1,2,3 (AUTHOR) javier.poyatos@uv.es, Soblechero-Martín, Patricia4 (AUTHOR), Liquori, Alessandro5,6 (AUTHOR), López-Martínez, Andrea4 (AUTHOR), Maestre, Pilar1 (AUTHOR), González-Romero, Elisa5 (AUTHOR), Vázquez-Manrique, Rafael P.7,8,9 (AUTHOR), Muelas, Nuria1,10,11 (AUTHOR), García-García, Gema7,8,9 (AUTHOR), Ohana, Jessica12 (AUTHOR), Arechavala-Gomeza, Virginia4,13 (AUTHOR), Vílchez, Juan J.1,3,10,11 (AUTHOR) juan.vilchez@uv.es
Publikováno v:
Skeletal Muscle. 10/1/2024, Vol. 14 Issue 1, p1-14. 14p.
Autor:
Albert DVF; Division of Child Neurology, Department of Pediatrics, Nationwide Children's Hospital/The Ohio State University, Columbus, Ohio. Electronic address: dara.albert@nationwidechildrens.org., Bass N; Division of Child Neurology, Department of Pediatrics, Rainbow Babies and Children's Hospital/University Hospitals of Cleveland/Case Western Reserve University, Cleveland, Ohio., Bodensteiner J; Director, American Board of Psychiatry and Neurology, Scottsdale, Arizona., Draconi C; Cleveland Clinic, Women's Health Institute, Cleveland, Ohio., Duke ES; Department of Neurology, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts., Felker M; Division of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana., Gropman A; Division of Neurogenetics and Neurodevelopmental Disabilities, Department of Neurology, Children's National Hospital, Washington, District of Columbia., Lotze T; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital/Baylor College of Medicine, Houston, Texas., Mink JW; Division of Child Neurology, Department of Neurology, University of Rochester, Rochester, New York., Reese JJ Jr; Division of Pediatric Neurology, Department of Neurology, University of New Mexico, Albuquerque, New Mexico., Spiciarich M; Division of Child Neurology, Department of Neurology, Columbia University Medical Center, New York, New York., Urion DK; Department of Neurology, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts., Edgar L; Accreditation Council for Graduate Medical Education, Chicago, Illinois.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2021 Jan; Vol. 114, pp. 47-52. Date of Electronic Publication: 2020 Oct 24.
Autor:
Abreu NJ; From the Division of Child Neurology (N.J.A.), Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH; Department of Neurology (D.K.U.), Boston Children's Hospital, MA; and Division of Child Neurology (M.R.A.), Departments of Pediatrics and Psychiatry, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, PA., Urion DK; From the Division of Child Neurology (N.J.A.), Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH; Department of Neurology (D.K.U.), Boston Children's Hospital, MA; and Division of Child Neurology (M.R.A.), Departments of Pediatrics and Psychiatry, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, PA., Asato MR; From the Division of Child Neurology (N.J.A.), Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH; Department of Neurology (D.K.U.), Boston Children's Hospital, MA; and Division of Child Neurology (M.R.A.), Departments of Pediatrics and Psychiatry, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, PA. Miya.Asato@chp.edu.
Publikováno v:
Neurology [Neurology] 2020 Dec 15; Vol. 95 (24), pp. 1113-1115. Date of Electronic Publication: 2020 Aug 14.
Autor:
Laventhal NT; From the Division of Neonatal-Perinatal Medicine (N.T.L.), Department of Pediatrics, University of Michigan School of Medicine and C.S. Mott Children's Hospital; Center for Bioethics and Social Sciences in Medicine (N.T.L.), University of Michigan, Ann Arbor, MI; Department of Anesthesiology (R.J.G.), Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia (R.J.G.), Harvard Medical School, Boston, MA; Department of Pediatrics (S.A.R.), University of Florida College of Medicine; Department of Epidemiology (S.A.R.), University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL; Department of Neurology (D.K.U.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, University of Florida College of Medicine; and Department of Neurology and Department of Molecular Genetics and Microbiology (P.B.K.), University of Florida College of Medicine, Gainesville, FL., Graham RJ; From the Division of Neonatal-Perinatal Medicine (N.T.L.), Department of Pediatrics, University of Michigan School of Medicine and C.S. Mott Children's Hospital; Center for Bioethics and Social Sciences in Medicine (N.T.L.), University of Michigan, Ann Arbor, MI; Department of Anesthesiology (R.J.G.), Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia (R.J.G.), Harvard Medical School, Boston, MA; Department of Pediatrics (S.A.R.), University of Florida College of Medicine; Department of Epidemiology (S.A.R.), University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL; Department of Neurology (D.K.U.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, University of Florida College of Medicine; and Department of Neurology and Department of Molecular Genetics and Microbiology (P.B.K.), University of Florida College of Medicine, Gainesville, FL., Rasmussen SA; From the Division of Neonatal-Perinatal Medicine (N.T.L.), Department of Pediatrics, University of Michigan School of Medicine and C.S. Mott Children's Hospital; Center for Bioethics and Social Sciences in Medicine (N.T.L.), University of Michigan, Ann Arbor, MI; Department of Anesthesiology (R.J.G.), Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia (R.J.G.), Harvard Medical School, Boston, MA; Department of Pediatrics (S.A.R.), University of Florida College of Medicine; Department of Epidemiology (S.A.R.), University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL; Department of Neurology (D.K.U.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, University of Florida College of Medicine; and Department of Neurology and Department of Molecular Genetics and Microbiology (P.B.K.), University of Florida College of Medicine, Gainesville, FL., Urion DK; From the Division of Neonatal-Perinatal Medicine (N.T.L.), Department of Pediatrics, University of Michigan School of Medicine and C.S. Mott Children's Hospital; Center for Bioethics and Social Sciences in Medicine (N.T.L.), University of Michigan, Ann Arbor, MI; Department of Anesthesiology (R.J.G.), Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia (R.J.G.), Harvard Medical School, Boston, MA; Department of Pediatrics (S.A.R.), University of Florida College of Medicine; Department of Epidemiology (S.A.R.), University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL; Department of Neurology (D.K.U.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, University of Florida College of Medicine; and Department of Neurology and Department of Molecular Genetics and Microbiology (P.B.K.), University of Florida College of Medicine, Gainesville, FL., Kang PB; From the Division of Neonatal-Perinatal Medicine (N.T.L.), Department of Pediatrics, University of Michigan School of Medicine and C.S. Mott Children's Hospital; Center for Bioethics and Social Sciences in Medicine (N.T.L.), University of Michigan, Ann Arbor, MI; Department of Anesthesiology (R.J.G.), Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia (R.J.G.), Harvard Medical School, Boston, MA; Department of Pediatrics (S.A.R.), University of Florida College of Medicine; Department of Epidemiology (S.A.R.), University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL; Department of Neurology (D.K.U.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Pediatric Neurology (P.B.K.), Department of Pediatrics, University of Florida College of Medicine; and Department of Neurology and Department of Molecular Genetics and Microbiology (P.B.K.), University of Florida College of Medicine, Gainesville, FL. pbkang@ufl.edu.
Publikováno v:
Neurology [Neurology] 2020 Aug 11; Vol. 95 (6), pp. 260-265. Date of Electronic Publication: 2020 Jun 01.
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Autor:
Zhao, Lei1 (AUTHOR), Shi, Yiyun1 (AUTHOR), Hu, Chaoping1 (AUTHOR), Zhou, Shuizhen1 (AUTHOR), Li, Hui2 (AUTHOR), Zhang, Lifeng3 (AUTHOR), Qian, Chuang4 (AUTHOR), Zhou, Yiyao5 (AUTHOR), Wang, Yi1 (AUTHOR) yiwang@shmu.edu.cn, Li, Xihua1 (AUTHOR) xihual@vip.sina.com
Publikováno v:
Orphanet Journal of Rare Diseases. 8/24/2024, Vol. 19 Issue 1, p1-14. 14p.
Autor:
Hwu, Wuh-Liang1,2 (AUTHOR) hwuwlntu@ntu.edu.tw
Publikováno v:
Journal of Biomedical Science. 8/13/2024, Vol. 31 Issue 1, p1-13. 13p.