المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, Van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenco, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, De Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice M., Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P. J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özklnay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, CA, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, Van De Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, Van Der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Genevieve

المصدر: Pelletier, Félixe Perrier, Stefanie Cayami, Ferdy K. Mirchi, Amytice Saikali, Stephan Tran, Luan T. Ulrick, Nicole Guerrero, Kether Rampakakis, Emmanouil Van Spaendonk, Rosalina M. L. Naidu, Sakkubai Pohl, Daniela Gibson, William T. Demos, Michelle Goizet, Cyril Tejera-Martin, Ingrid Potic, Ana Fogel, Brent Brais, Bernard Sylvain, Michel Sébire, Guillaume Lourenco, Charles Marques Bonkowsky, Joshua L. Catsman-Berrevoets, Coriene Pinto, Pedro S. Tirupathi, Sandya Strømme, Petter De Grauw, Ton Gieruszczak-Bialek, Dorota Krägeloh-Mann, Ingeborg Mierzewska, Hanna Philippi, Heike Rankin, Julia Atik, Tahir Banwell, Brenda Benko, William S. Blaschek, Astrid Bley, Annette Boltshauser, Eugen Bratkovic, Drago Brozova, Klara Cimas, Icíar Clough, Christopher Corenblum, Bernard Dinopoulos, Argirios Dolan, Gail Faletra, Flavio Fernandez, Raymond Fletcher, Janice M. Garcia Garcia, Maria Eugenia Gasparini, Paolo Gburek-Augustat, Janina Gonzalez Moron, Dolores Hamati, Aline Harting, Inga Hertzberg, Christoph Hill, Alan Hobson, Grace M. Innes, A. Micheil Kauffman, Marcelo Kirwin, Susan M. Kluger, Gerhard Kolditz, Petra Kotzaeridou, Urania La Piana, Roberta Liston, Eriskay McClintock, William McEntagart, Meriel McKenzie, Fiona Melançon, Serge Misbahuddin, Anjum Suri, Mohnish Monton, Fernando I. Moutton, Sebastien Murphy, Raymond P. J. Nickel, Miriam Onay, Hüseyin Orcesi, Simona Özklnay, Ferda Patzer, Steffi Pedro, Helio Pekic, Sandra Pineda Marfa, Mercedes Pizzino, Amy Plecko, Barbara Poll-The, Bwee Tien Popovic, Vera Rating, Dietz Rioux, Marie-France Rodriguez Espinosa, Norberto Ronan, Anne Ostergaard, John R. Rossignol, Elsa Sanchez-Carpintero, Rocio Schossig, Anna Senbil, Nesrin Sønderberg Roos, Laura K. Stevens, CA Synofzik, Matthis Sztriha, László Tibussek, Daniel Timmann, Dagmar Tonduti, Davide Van De Warrenburg, Bart P. Vázquez-López, Maria Venkateswaran, Sunita Wasling, Pontus Wassmer, Evangeline Webster, Richard Wiegand, Gert Yoon, Grace Rotteveel, Joost Schiffmann, Raphael Van Der Knaap, Marjo S. Vanderver, Adeline Martos-Moreno, Gabriel Á Polychronakos, Constantin Wolf, Nicole I. Bernard, Genevieve . Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Jo
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e660
e674

الإتاحة: http://hdl.handle.net/10852/93640
https://www.duo.uio.no/bitstream/handle/10852/93640/1/Pelletier_et_al_2021.pdf

المؤلفون: Dolan, Gail.

مصطلحات موضوعية: lipids (amino acids, peptides, and proteins), Chemistry, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::553b051d4d0b8d3f0df90d04c3df20ad

المؤلفون: Godin, Claude, Dolan, Gail

المصدر: The Journal of Nutrition; November 1966, Vol. 90 Issue: 3 p284-290, 7p

المؤلفون: DOLAN, GAIL, GODIN, C.

المصدر: Nature; 3/4/1967, Vol. 213 Issue 5079, p916-917, 2p

المؤلفون: Pelletier F; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada., Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Cayami FK; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada., Saikali S; Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada., Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Rampakakis E; Department of Pediatrics, McGill University, Montreal, QC, Canada., van Spaendonk RML; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA., Pohl D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Gibson WT; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada., Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada., Goizet C; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France., Tejera-Martin I; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain., Potic A; Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia., Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute, Montreal, QC, Canada., Sylvain M; Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada., Sébire G; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada., Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil., Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Catsman-Berrevoets C; Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands., Pinto PS; Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal., Tirupathi S; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK., Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, 0450 Oslo, and University of Oslo, Oslo, Norway., de Grauw T; Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA., Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland., Krägeloh-Mann I; Department of Child Neurology, University Children's Hospital Tübingen, Tübingen, Germany., Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland., Philippi H; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Atik T; Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Banwell B; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Benko WS; Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA., Blaschek A; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Boltshauser E; Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Brozova K; Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic., Cimas I; Department of Neurology, Povisa Hospital, Vigo, Spain., Clough C; Department of Neurology, King's College Hospital, London, UK., Corenblum B; Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada., Dinopoulos A; Third Department of Pediatrics, National and Kapodistrian University of Athens, 'Attikon' Hospital, Athens, Greece., Dolan G; Bristow Pediatrics, Bristow, VA, USA., Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Fernandez R; Pediatric Neurology Associates, Tampa, FL, USA., Fletcher J; Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia., Garcia Garcia ME; Department of Neurology, The Royal London Hospital, London, UK., Gasparini P; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34100 Trieste, and University of Trieste, Trieste, Italy., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany., Gonzalez Moron D; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina., Hamati A; Department of Child Neurology, Indiana University, Indianapolis, IN, USA., Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany., Hertzberg C; Department of Child Neurology, Vivantes Klinikum, Berlin, Germany., Hill A; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada., Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Kauffman M; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, ADC, Buenos Aires, Argentina., Kirwin SM; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Kluger G; PMU Salzburg, 5020 Salzburg, Austria; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany., Kolditz P; Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland., Kotzaeridou U; Department of Child Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany., La Piana R; Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada., Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., McClintock W; Pediatric Specialists of Virginia, Fairfax, VA, USA.; Department of Neurology, Children's National Medical Center, Washington, DC, USA., McEntagart M; South West Thames Regional Genetics Service, St. George's Hospital, London, UK., McKenzie F; Genetic Services of Western Australia, Subiaco, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia., Melançon S; Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, QC, Canada., Misbahuddin A; Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Monton FI; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain., Moutton S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France., Murphy RPJ; Department of Neurology, Tallaght University Hospital, Tallaght, Ireland., Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Onay H; Department of Medical Genetics, Ege University, Izmir, Turkey., Orcesi S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Özkınay F; Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey., Patzer S; Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany., Pedro H; Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA., Pekic S; Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia., Pineda Marfa M; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain., Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, 1105 Amsterdam, The Netherlands., Popovic V; Medical Faculty, University of Belgrade, Belgrade, Serbia., Rating D; Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany., Rioux MF; Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada., Rodriguez Espinosa N; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain., Ronan A; Hunter New England LHD, University of Newcastle, NSW, Australia., Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Rossignol E; Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada., Sanchez-Carpintero R; Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain., Schossig A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Senbil N; Department of Child Neurology, Kırıkkale University Medical Faculty, Kırıkkale, Turkey., Sønderberg Roos LK; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Stevens CA; Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA., Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Sztriha L; Department of Paediatrics, University of Szeged, Szeged, Hungary., Tibussek D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany., Timmann D; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Vázquez-López M; Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain., Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Wasling P; Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Wassmer E; Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK., Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Wiegand G; Department of Pediatric Neurology, University Hospital Kiel, Germany.; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany., Yoon G; Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Rotteveel J; Emma Children's Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Schiffmann R; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Martos-Moreno GÁ; Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; CIBER de Fisiopatologia de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain., Polychronakos C; Division of Endocrinology, Montreal Children's Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Jan 23; Vol. 106 (2), pp. e660-e674.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: DNA-Directed RNA Polymerases/*genetics , Endocrine System Diseases/*genetics , Growth Disorders/*genetics , Hereditary Central Nervous System Demyelinating Diseases/*genetics , Mitochondrial Diseases/*genetics, Adolescent ; Adult ; Biological Variation, Population ; Child ; Child, Preschool ; Cohort Studies ; Cross-Sectional Studies ; Endocrine System Diseases/epidemiology ; Endocrine System Diseases/etiology ; Female ; Genetic Heterogeneity ; Growth Disorders/epidemiology ; Growth Disorders/etiology ; Hereditary Central Nervous System Demyelinating Diseases/complications ; Hereditary Central Nervous System Demyelinating Diseases/epidemiology ; Humans ; Hypogonadism/epidemiology ; Hypogonadism/etiology ; Infant ; Infant, Newborn ; Male ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/epidemiology ; Mutation ; RNA Polymerase III/genetics ; Retrospective Studies ; Young Adult

SCR Disease Name: Leukodystrophy, Hypomyelinating, 4