Zobrazeno 1 - 10
of 17
pro vyhledávání: '"MacLennan SC"'
Publikováno v:
Child: Care, Health & Development; May2004, Vol. 30 Issue 3, p297-300, 4p
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
van Eyk C; The Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., MacLennan SC; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Neurology Department, Women's & Children's Hospital, Adelaide, South Australia, Australia., MacLennan AH; The Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
Publikováno v:
JAMA pediatrics [JAMA Pediatr] 2023 May 01; Vol. 177 (5), pp. 455-456.
Autor:
Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France., MacLennan SC; Department of Paediatric Neurology, Women's and Children's Hospital, Adelaide, South Australia, Australia., Wessels MW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Krygier M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland., Pavinato L; Department of Medical Sciences, University of Turin, Turin, Italy.; Center for Molecular Medicine Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany., Telegrafi A; Clinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Iacomino M; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Madia F; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Scudieri P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Uva P; Clinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Giacomini T; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Nobile G; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Mancardi MM; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Galloni GB; Struttura Complessa Neuropsichiatria Infantile Sud, Azienda Sanitaria Locale Città di Torino, Torino, Italy., Verrotti A; Department of Pediatrics, University of Perugia, Perugia, Italy., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Khan A; Faculty of Biological Science, Department of Zoology, University of Lakki Marwat, Lakki Marwat, Pakistan., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia., Schmidts M; Department of General Pediatrics and Adolescent Medicine, Medical Center and Faculty of Medicine, University of Freiburg, Freiburg, Germany., Langer T; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy.; Unit of Medical Genetics, 'Città della Salute e della Scienza' University Hospital, Turin, Italy., Lipska-Ziętkiewicz BS; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.; Centre for Rare Diseases, Medical University of Gdańsk, Gdańsk, Poland., Saris JJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Charlet-Berguerand N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut Universitaire de France, Paris, Île-de-France, France.
Publikováno v:
Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1299-1313. Date of Electronic Publication: 2022 Jun 08.
Autor:
D'Silva AM; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia., Holland S; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia., Kariyawasam D; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia., Herbert K; Physiotherapy, Sydney Children's Hospital, Sydney, New South Wales, Australia., Barclay P; Department of Pharmacy, Prince of Wales Hospital, Sydney Children's Hospital Randwick and The Royal Hospital for Women, Randwick, New South Wales, Australia., Cairns A; Neurosciences Department, Queensland's Children Hospital, South Brisbane, Queensland, Australia., MacLennan SC; Neurology Department, Women's & Children's Hospital, North Adelaide, South Australia, Australia.; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia., Ryan MM; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Sampaio H; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia., Smith N; Gene Therapy Research Unit, Sydney Children's Hospitals Network and Children's Medical Research Institute, The University of Sydney, Westmead, Australia., Woodcock IR; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Yiu EM; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Australia., Alexander IE; Gene Therapy Research Unit, Sydney Children's Hospitals Network and Children's Medical Research Institute, The University of Sydney, Westmead, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Farrar MA; Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Mar; Vol. 9 (3), pp. 339-350. Date of Electronic Publication: 2022 Feb 16.
Autor:
Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA.; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Lewis SA; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Shetty S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Nordlie SM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Elie A; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Corbett MA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Norton BY; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., van Eyk CL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, London, UK., Guida BS; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Magee H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Liu J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Pastore S; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Vincent JB; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Brunstrom-Hernandez J; One CP Place, Plano, TX, USA., Papavasileiou A; Division of Paediatric Neurology, Iaso Children's Hospital, Athens, Greece., Fahey MC; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia., Berry JG; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Zhou C; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Zhang J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Heim J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Webber DL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Frank MSB; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Xia L; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhu D; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhang B; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Sheth AH; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., López-Giráldez F; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Doummar D; Sorbonne Université, APHP, Service de Neurologie Pédiatrique et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Cho M; GeneDx, Gaithersburg, MD, USA., Retterer K; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Wang Y; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Waugh JL; Departments of Pediatrics & Neurology, University of Texas Southwestern and Children's Medical Center of Dallas, Dallas, TX, USA., Rodan L; Departments of Genetics & Genomics and Neurology, Boston Children's Hospital, Boston, MA, USA., Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Lin AE; Medical Genetics, Department of Pediatrics, MassGeneral Hospital for Children, Boston, MA, USA., Phillips JP; Departments of Pediatrics and Neurology, University of New Mexico, Albuquerque, NM, USA., Feyma T; Division of Pediatric Neurology, Gillette Children's Hospital, St Paul, MN, USA., MacLennan SC; Department of Paediatric Neurology, Women's & Children's Hospital, Adelaide, South Australia, Australia., Vaughan S; Departments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA., Crompton KE; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Reid SM; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Reddihough DS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Shang Q; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Gao C; Rehabilitation Department, Children's Hospital of Zhengzhou University/Henan Children's Hospital, Zhengzhou, China., Novak I; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Badawi N; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Wilson YA; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., McIntyre SJ; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Mane SM; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Wang X; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden., Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Zarnescu DC; Departments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Xing Q; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Zhu C; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Gecz J; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., MacLennan AH; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA. kruerm@email.arizona.edu.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA. kruerm@email.arizona.edu.
Publikováno v:
Nature genetics [Nat Genet] 2021 Mar; Vol. 53 (3), pp. 412.
Autor:
Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA.; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Lewis SA; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Shetty S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Nordlie SM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Elie A; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Corbett MA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Norton BY; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., van Eyk CL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, London, UK., Guida BS; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Magee H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Liu J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Pastore S; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Vincent JB; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Brunstrom-Hernandez J; One CP Place, Plano, TX, USA., Papavasileiou A; Division of Paediatric Neurology, Iaso Children's Hospital, Athens, Greece., Fahey MC; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia., Berry JG; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Zhou C; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Zhang J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Heim J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Webber DL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Frank MSB; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Xia L; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhu D; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhang B; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Sheth AH; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., López-Giráldez F; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Doummar D; Sorbonne Université, APHP, Service de Neurologie Pédiatrique et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Cho M; GeneDx, Gaithersburg, MD, USA., Retterer K; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Wang Y; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Waugh JL; Departments of Pediatrics & Neurology, University of Texas Southwestern and Children's Medical Center of Dallas, Dallas, TX, USA., Rodan L; Departments of Genetics & Genomics and Neurology, Boston Children's Hospital, Boston, MA, USA., Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Fatemi A; Division of Neurogenetics and Hugo W. 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Publikováno v:
Nature genetics [Nat Genet] 2020 Oct; Vol. 52 (10), pp. 1046-1056. Date of Electronic Publication: 2020 Sep 28.
Autor:
Pham R; School of Public Health, University of Adelaide, Adelaide, South Australia, Australia., Mol BW; Discipline of Obstetrics & Gynaecology, University of Adelaide, Adelaide, South Australia, Australia.; Discipline of Obstetrics & Gynaecology, Monash University, Clayton, Victoria, Australia., Gecz J; Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., MacLennan AH; Discipline of Obstetrics & Gynaecology, University of Adelaide, Adelaide, South Australia, Australia.; Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., MacLennan SC; Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia., Corbett MA; Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., van Eyk CL; Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., Webber DL; Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., Palmer LJ; School of Public Health, University of Adelaide, Adelaide, South Australia, Australia., Berry JG; Discipline of Obstetrics & Gynaecology, University of Adelaide, Adelaide, South Australia, Australia.; Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2020 Sep; Vol. 62 (9), pp. 1024-1030. Date of Electronic Publication: 2020 Jun 15.