Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Sobreira NLM"'
Autor:
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.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2023 Oct 01; Vol. 32 (4), pp. 172-174. Date of Electronic Publication: 2023 Jun 16.
Autor:
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.
Publikováno v:
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo [Rev Paul Pediatr] 2023 Apr 07; Vol. 41, pp. e2022057. Date of Electronic Publication: 2023 Apr 07 (Print Publication: 2023).
Autor:
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.
Publikováno v:
PLoS genetics [PLoS Genet] 2022 Dec 08; Vol. 18 (12), pp. e1010504. Date of Electronic Publication: 2022 Dec 08 (Print Publication: 2022).
Autor:
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.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Apr; Vol. 9 (4), pp. e1655. Date of Electronic Publication: 2021 Mar 14.
Autor:
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.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 Dec 04; Vol. 29 (22), pp. 3662-3678.
Autor:
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.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1796-1800. Date of Electronic Publication: 2020 May 18.
Autor:
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.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Jul 03; Vol. 105 (1), pp. 151-165. Date of Electronic Publication: 2019 Jun 20.
Autor:
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.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2019 Mar 01; Vol. 129 (3), pp. 1240-1256. Date of Electronic Publication: 2019 Feb 11.
Autor:
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.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Feb; Vol. 179 (2), pp. 306-311. Date of Electronic Publication: 2018 Dec 18.
Autor:
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.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2018 Mar; Vol. 61 (3), pp. 134-138. Date of Electronic Publication: 2017 Nov 21.