Zobrazeno 1 - 10
of 46 700
pro vyhledávání: '"X-linked"'
Autor:
Wang Y; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Ma Q; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Chen J; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Li S; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Zheng F; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Shi L; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Li X; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Li S; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Tong G; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China., Li H; Department of Rehabilitation, Anhui Provincial Children's Hospital, Hefei, China. lhong_mail@163.com.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Oct 03; Vol. 24 (1), pp. 631. Date of Electronic Publication: 2024 Oct 03.
Autor:
Lukin J; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Alper Center for Neural Development and Regeneration, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Smith CM; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Alper Center for Neural Development and Regeneration, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Alper Center for Neural Development and Regeneration, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: silvia.derubeis@mssm.edu.
Publikováno v:
Current opinion in neurobiology [Curr Opin Neurobiol] 2024 Oct; Vol. 88, pp. 102902. Date of Electronic Publication: 2024 Aug 20.
Autor:
van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Lampri AP; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., de Lange I; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Alders M; Amsterdam UMC, Department of Human Genetics, Genome Diagnostics Laboratory, Amsterdam Reproduction & Development, University of Amsterdam, Amsterdam, the Netherlands., Houben ML; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Koudijs MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: r.h.vanjaarsveld@umcutrecht.nl.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104949. Date of Electronic Publication: 2024 May 24.
Autor:
Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada., Liang Y; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada., McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H 8L1, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada. ddyment@cheo.on.ca.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H 8L1, Canada. ddyment@cheo.on.ca., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 5B2, Canada. kkernohan@cheo.on.ca.; Newborn Screening Ontario, Ontario, ON, K1H 8L1, Canada. kkernohan@cheo.on.ca.
Publikováno v:
Journal of human genetics [J Hum Genet] 2024 Feb; Vol. 69 (2), pp. 101-105. Date of Electronic Publication: 2023 Oct 31.
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.
Autor:
López-Garrido MP; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain., Carrascosa-Romero MC; Servicio de Neuropediatría, Complejo Hospitalario Universitario de Albacete, Albacete, Spain., Montero-Hernández M; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain., Ruiz-Almansa J; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain., Sánchez-Sánchez F; Laboratorio de Genética Médica, Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha (UCLM), Albacete, Spain. francisco.ssanchez@uclm.es.
Publikováno v:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Jan; Vol. 54 (1), pp. 379-388. Date of Electronic Publication: 2022 May 20.
Autor:
Oshima M; Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan., Matsukawa Y, Ikeda Y, Sakamoto K, Taga T, Maruo Y
Publikováno v:
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2024 Mar 01; Vol. 46 (2), pp. e191-e194. Date of Electronic Publication: 2024 Jan 22.
Autor:
Ediae GU; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Chisholm C; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Lemire G; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Campbell F; Conroy Optometric Centre, Ottawa, Ontario, Canada., Boycott KM; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 397-399. Date of Electronic Publication: 2023 Oct 05.
Autor:
Dong R; Institute of Pediatric Research, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com., Yang Y, Guo H, Gao M, Lyu Y, Li Y, Yang X, Liu Y
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Dec 10; Vol. 40 (12), pp. 1508-1511.
Autor:
Petrozziello T; Sean M. Healey & AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA., Motlagh NJ; Department of Radiology, Institute for Innovation in Imaging, Massachusetts General Hospital, Boston, Massachusetts, USA.; Center for Systems Biology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Monsanto RZB; Sean M. Healey & AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA., Lei D; Department of Neurology Genetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, Massachusetts, USA., Murcar MG; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Penney EB; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Bragg DC; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Fernandez-Cerado C; Sunshine Care Foundation, Roxas City, Capiz, Philippines., Legarda GP; Sunshine Care Foundation, Roxas City, Capiz, Philippines., Sy M; Sunshine Care Foundation, Roxas City, Capiz, Philippines., Muñoz E; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Ang MC; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Diesta CCE; Department of Neurosciences, Makati Medical Center, Makati, Philippines., Zhang C; Department of Neurology Genetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, Massachusetts, USA., Tanzi RE; Department of Neurology Genetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Boston, Massachusetts, USA., Qureshi IA; Biohaven Pharmaceuticals Inc., New Haven, Connecticut, USA., Chen JW; Department of Radiology, Institute for Innovation in Imaging, Massachusetts General Hospital, Boston, Massachusetts, USA.; Center for Systems Biology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Sadri-Vakili G; Sean M. Healey & AMG Center for ALS at Mass General, Massachusetts General Hospital, Boston, Massachusetts, USA.
Publikováno v:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Nov; Vol. 30 (11), pp. e70109.