학술논문
'학술논문'
에서 검색결과 12건 | 목록
1~10
Academic Journal
Espolaor JGA; Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Perrone E; Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Silva MFB; Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Virmond LA; Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE
Report
Migliavacca MP; Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Fock RA; Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Almeida N; Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brazil.; Cavalcanti T; Diagnósticos da América S.A., São Paulo, Brazil.; Villela D; Diagnósticos da América S.A., São Paulo, Brazil.; Perez ABA; Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Valle D; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Wohler E; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Sobreira NLM; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Raskin S; Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brazil.
Publisher: Sociedade De Pediatria De Sao Paulo Country of Publication: Brazil NLM ID: 9109353 Publication Model: eCollection Cited Medium: Internet ISSN: 1984-0462 (Electronic) Linking ISSN: 01030582 NLM ISO Abbreviation: Rev Paul Pediatr Subsets: MEDLINE
Academic Journal
Poll SR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Martin R; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Partan ES; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Walek E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Salman S; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, United States of America.; Kratz L; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Cernach M; Universidade Metropolitana de Santos, Santos, São Paulo, Brazil.; Jesus-Garcia R; Department of Orthopedics-Oncology, Universidade Federal de São Paulo, São Paulo, Brazil.; Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, North Carolina, United States of America.; Choi YJ; Department of Neurology, University of California, Irvine, California, United States of America.; Morris CD; Department of Orthopedic Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.; Department of Oncology, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.; Cohen B; Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland, Untied States of America.; Hoover-Fong J; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Valle D; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Semenza GL; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Academic Journal
Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Oral and Maxillofacial Sciences, Dental School, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.; Al Dhaheri N; Department of Medical Genetics, John Hopkins University, Baltimore, MD, USA.; Li M; Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.; Busch T; Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.; Obiri-Yeboah S; Department of Oral and Maxillofacial Sciences, Dental School, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Oti AA; Department of Oral and Maxillofacial Sciences, Dental School, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Sabbah DK; Department of Orthodontics and Child Oral Health, Dental School, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Arthur FKN; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Awotoye WO; Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.; Alade AA; Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.; Twumasi P; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Agbenorku P; Department of Surgery, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Plange-Rhule G; Department of Child Health, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Naicker T; Department of Pediatrics, University of KwaZulu-Natal, South Africa.; Donkor P; Department of Oral and Maxillofacial Sciences, Dental School, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Surgery, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Sobreira NLM; Department of Medical Genetics, John Hopkins University, Baltimore, MD, USA.; Butali A; Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Academic Journal
Martin EMMA; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Enriquez A; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Sparrow DB; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Science, UNSW, Sydney 2052, Australia.; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK.; Humphreys DT; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Molecular, Structural and Computational Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; McInerney-Leo AM; Dermatology Research Centre, The University of Queensland Diamantina Institute, Translational Research Institute, Brisbane 4072, Australia.; Leo PJ; Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba 4102, Australia.; Duncan EL; Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba 4102, Australia.; Department of Twin Research & Genetic Epidemiology, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London SE1 7EH, UK.; Faculty of Medicine, University of Queensland, Herston 4006, Australia.; Iyer KR; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Greasby JA; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Ip E; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Computational Genomics Laboratory, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Giannoulatou E; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Computational Genomics Laboratory, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Sheng D; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore 21287, USA.; Dimartino C; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.; Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris 75015, France.; Capri Y; Département de Génétique, Hôpital Robert Debré, Assistance Publique Hôpitaux de Paris, Paris 75019, France.; Lehalle D; Centre Hospitalier Intercommunal Créteil, Créteil 94000, France.; Mory A; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Wilnai Y; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Lebenthal Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.; Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Pediatric Endocrinology and Diabetes Unit, Tel Aviv 6423906, Israel.; Gharavi AG; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA.; Krzemień GG; Department of Pediatrics and Nephrology, Warsaw Medical University, Warsaw 02-091, Poland.; Miklaszewska M; Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Kraków 30-663, Poland.; Steiner RD; Marshfield Clinic Health System, Marshfield, WI 54449, USA.; University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.; Raggio C; Hospital for Special Surgery, Pediatrics Orthopedic Surgery, New York, NY 10021, USA.; Blank R; Department of Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Baris Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.; Milo Rasouly H; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA.; Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore 21287, USA.; Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G1X3, Canada.; Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institute National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris 75015, France.; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris 75015, France.; Giampietro PF; Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA.; Dunwoodie SL; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Medicine, UNSW, Sydney 2052, Australia.; Faculty of Science, UNSW, Sydney 2052, Australia.; Chapman G; Development & Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney 2010, Australia.; Faculty of Medicine, UNSW, Sydney 2052, Australia.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Report
Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Speck-Martins CE; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Brum JM; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Rafehi H; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia.; Szmulewicz DJ; Cerebellar Ataxia Clinic, Neuroscience Department, Alfred Health, Melbourne, VIC 3004, Australia; Balance Disorders and Ataxia Service, Royal Victorian Eye & Ear Hospital, East Melbourne, VIC 3002, Australia.; Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, 245 Burgundy Street, Heidelberg, VIC 3084, Australia.; Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia.; Smith KR; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia.; Gillies G; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia.; Diakumis P; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Melbourne, VIC 3000, Australia.; Dolzhenko E; Illumina Inc, 5200 Illumina Way, San Diego, CA 92122, USA.; Eberle MA; Illumina Inc, 5200 Illumina Way, San Diego, CA 92122, USA.; Barcina MG; Genetic Unit, Basurto University Hospital, OSI Bilbao-Basurto, avenida Montevideo 18, 48013 Bilbao, Spain.; Breen DP; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh EH16 4SB, Scotland; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh EH16 4SB, Scotland; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH16 4UX, Scotland.; Chancellor AM; Department of Neurology, Tauranga Hospital, Private Bag, Cameron Road, Tauranga 3171, New Zealand.; Cremer PD; University of Sydney, Camperdown, NSW 2006, Australia; Royal North Shore Hospital, Pacific Hwy, St Leonards, NSW 2065, Australia.; Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia.; Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Hackett A; Hunter Genetics, Hunter New England Health Service, Waratah, Newcastle, NSW 2300, Australia; University of Newcastle, Newcastle, NSW 2300, Australia.; Halmagyi GM; Neurology Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia; Central Clinical School, University of Sydney, Camperdown, NSW 2050, Australia.; Kapetanovic S; Servicio de Neurología, Hospital de Basurto, Avenida de Montevideo 18, 48013 Bilbao, Bizkaia, Spain.; Lang A; Edmond J. Safra Program in Parkinson disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, ON M5T 2S8, Canada; Department of Medicine, Division of Neurology, University Health Network and the University of Toronto, Toronto, ON M5T 2S8, Canada.; Mossman S; Department of Neurology, Wellington Hospital, Wellington 6021, New Zealand.; Mu W; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Patrikios P; Sunshine Neurology, Maroochydore, QLD 4558, Australia.; Perlman SL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.; Rosemergy I; Department of Neurology, Wellington Hospital, Newtown, Wellington 6021, New Zealand.; Storey E; Department of Neuroscience, Central Clinical School, Monash University, Alfred Hospital Campus, Commercial Road, Melbourne, VIC 3004, Australia.; Watson SRD; Institute of Neurological Sciences, Prince of Wales Hospital, Randwick, NSW 2031, Australia.; Wilson MA; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia.; Zee DS; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.; Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia.; Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia.; Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Pant DC; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Dorboz I; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, Paris, France.; Schluter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Fourcade S; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Launay N; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Joya J; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service, Navarrabiomed, Pamplona, Spain.; Yoldi ME; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service, Navarrabiomed, Pamplona, Spain.; Casasnovas C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.; Willis MJ; Department of Pediatrics, Naval Medical Center San Diego, San Diego, California, USA.; Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Ville D; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.; Lesca G; Department of Medical Genetics, Lyon University Hospital and GENDEV team CNRS UMR 5292, INSERM U1028, CRNL, and University Claude Bernard Lyon 1, Lyon, France.; Siquier-Pernet K; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France.; Desguerre I; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France.; Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Molecular & Behavioral Neuroscience Institute, and.; Wang J; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Burmeister M; Molecular & Behavioral Neuroscience Institute, and.; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Brady L; Department of Pediatrics (Neuromuscular and Neurometabolics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Tarnopolsky M; Department of Pediatrics (Neuromuscular and Neurometabolics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Cornet C; ZeClinics SL, PRBB, Barcelona, Spain.; Rubbini D; ZeClinics SL, PRBB, Barcelona, Spain.; Terriente J; ZeClinics SL, PRBB, Barcelona, Spain.; James KN; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Musaev D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Patterson MC; Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.; Lanpher BC; Department of Clinical Genomics and.; Klee EW; Department of Clinical Genomics and.; Center for Individualized Medicine, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Pinto E Vairo F; Department of Clinical Genomics and.; Center for Individualized Medicine, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Wohler E; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Cohen JS; Moser Center for Leukodystrophies at the Kennedy Krieger Institute, Baltimore, Maryland, USA.; Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom.; Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Colleaux L; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France.; Rodriguez D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France.; GRC ConCer-LD, Sorbonne Universités, UPMC Université, Paris, France.; Gleeson JG; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Pujades C; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.; Fatemi A; Moser Center for Leukodystrophies at the Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.; Boespflug-Tanguy O; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, Paris, France.; Assistance Publique des Hopitaux de Paris (APHP), Reference Center for Leukodystrophies and Rare Leukoencephalopathies (LEUKOFRANCE), Hôpital Robert Debré, Paris, France.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Academic Journal
Giorgio E; Department of Medical Sciences, University of Torino, Torino, Italy.; Sirchia F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy.; Bosco M; Pathological Anatomy and Histology Unit, San Lazzaro Hospital, Alba, Italy.; Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Grosso E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy.; Brussino A; Department of Medical Sciences, University of Torino, Torino, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil. Electronic address: danielcarvalho@sarah.br.; Medeiros JEG; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Ribeiro DSM; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Martins BJAF; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.; Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
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