Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Gabbett MT"'
Autor:
Alexander KE; Centre for Healthcare Transformation, School of Nursing, Queensland University of Technology, Brisbane, QLD, Australia.; Cancer and Palliative Care Outcomes Centre, School of Nursing, Queensland University of Technology, Brisbane, QLD, Australia., Rolfe M; Centre for Healthcare Transformation, School of Nursing, Queensland University of Technology, Brisbane, QLD, Australia.; Cancer and Palliative Care Outcomes Centre, School of Nursing, Queensland University of Technology, Brisbane, QLD, Australia., Gabbett MT; Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Jul 16; Vol. 15, pp. 1419302. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).
Autor:
Kriukelis R; Queensland Children's Hospital, South Brisbane, QLD, Australia., Gabbett MT; Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia., Beswick R; University of Queensland Centre for Children's Health Research, South Brisbane, QLD, Australia.; Healthy Hearing Program, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, Australia.; School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, QLD, Australia., McInerney-Leo AM; Frazer Institute, University of Queensland, Dermatology Research Centre, Brisbane, QLD, Australia., Driscoll C; School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, QLD, Australia., Liddle K; Queensland Children's Hospital, South Brisbane, QLD, Australia. k.liddle@uq.edu.au.; University of Queensland Centre for Children's Health Research, South Brisbane, QLD, Australia. k.liddle@uq.edu.au.; Frazer Institute, University of Queensland, Dermatology Research Centre, Brisbane, QLD, Australia. k.liddle@uq.edu.au.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Mar 15. Date of Electronic Publication: 2024 Mar 15.
Autor:
Vavassori S; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Chou J; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Faletti LE; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Haunerdinger V; Division of Stem Cell Transplantation and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Opitz L; Functional Genomics Center Zürich, University of Zurich, Zurich, Switzerland., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Fraser CJ; Queensland Children's Hospital, South Brisbane, Australia., Prader S; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Gao X; Division of Pediatric Pneumology, Dr. von Hauner Children's Hospital, University Hospital Munich, German Center for Lung Research (DZL), Munich, Germany., Schuch LA; Division of Pediatric Pneumology, Dr. von Hauner Children's Hospital, University Hospital Munich, German Center for Lung Research (DZL), Munich, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Maccari ME; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Zhu Y; New South Wales Health Pathology Genomics, Prince of Wales Hospital, Sydney, Australia., Elakis G; New South Wales Health Pathology Genomics, Prince of Wales Hospital, Sydney, Australia., Gabbett MT; Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane, Australia., Forstner M; Division of Pediatric Pneumology, Dr. von Hauner Children's Hospital, University Hospital Munich, German Center for Lung Research (DZL), Munich, Germany., Omran H; Clinic for General Pediatrics, University Hospital Münster, Münster, Germany., Kaiser T; Clinic for General Pediatrics, University Hospital Münster, Münster, Germany., Kessler C; Clinic for General Pediatrics, University Hospital Münster, Münster, Germany., Olbrich H; Clinic for General Pediatrics, University Hospital Münster, Münster, Germany., Frosk P; Division of Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Almutairi A; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Platt CD; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Elkins M; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Weeks S; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Rubin T; Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Planas R; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Marchetti T; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Koovely D; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Klämbt V; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Cairo University, Cairo, Egypt., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Klemann C; Department of Paediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany., Baumann U; Department of Paediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany., Lenz D; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Klein-Franke A; Division of Pediatric Hematology and Oncology, Cantonal Hospital Aarau, Aarau, Switzerland., Schwemmle M; Institute of Virology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Huber M; Institute of Medical Virology, University of Zurich, Zurich, Switzerland., Sturm E; Division of Pediatric Gastroenterology and Hepatology, University Hospital Tübingen, Tübingen, Germany., Hartleif S; Division of Pediatric Gastroenterology and Hepatology, University Hospital Tübingen, Tübingen, Germany., Häffner K; Department of Internal Medicine IV (Nephrology), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Gimpel C; Department of Internal Medicine IV (Nephrology), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Brotschi B; Department of Pediatric and Neonatal Intensive Care, University Children's Hospital Zurich, Zurich, Switzerland., Laube G; Division of Nephrology, University Children's Hospital Zurich, Zurich, Switzerland., Güngör T; Division of Stem Cell Transplantation and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Buckley MF; New South Wales Health Pathology Genomics, Prince of Wales Hospital, Sydney, Australia., Kottke R; Division of Neuroradiology, Department of Diagnostic Imaging and Intervention, University Children's Hospital Zurich, Zurich, Switzerland., Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Reu-Hofer S; Institute of Pathology, University of Würzburg, Würzburg, Germany., Moll S; Department of Pathology and Immunology, University of Geneva, Geneva, Switzerland., Weber A; Department of Pathology and Molecular Pathology, and Institute of Molecular Cancer Research, University Hospital and University of Zurich, Zurich, Switzerland., Kaur H; Biozentrum, University of Basel, Basel, Switzerland., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Hiller S; Biozentrum, University of Basel, Basel, Switzerland., Geha R; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address: raif.geha@childrens.harvard.edu., Roscioli T; New South Wales Health Pathology Genomics, Prince of Wales Hospital, Sydney, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, Australia; Prince of Wales Clinical School, University of New South Wales, Sydney, Australia; Neuroscience Research Australia, University of New South Wales, Sydney, Australia., Griese M; Division of Pediatric Pneumology, Dr. von Hauner Children's Hospital, University Hospital Munich, German Center for Lung Research (DZL), Munich, Germany., Pachlopnik Schmid J; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Pediatric Immunology, University of Zurich, Zurich, Switzerland. Electronic address: jana.pachlopnik@kispi.uzh.ch.
Publikováno v:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2021 Aug; Vol. 148 (2), pp. 381-393. Date of Electronic Publication: 2021 Apr 17.
Autor:
Withers CM; Tasman Oncology Research, Southport, Queensland, Australia., Fleming J; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Wallingford CK; The University of Queensland Diamantina Institute, The University of Queensland, Woolloongabba, Queensland, Australia.; Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia., Gabbett MT; School of Biomedical Sciences & Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Kelvin Grove, Queensland, Australia., Peterson M; Griffith University, Biomolecular and Physical Sciences, Nathan, Queensland, Australia., Humphreys L; School of Medicine, Griffith University, Southport, Queensland, Australia., McInerney-Leo A; The University of Queensland Diamantina Institute, The University of Queensland, Woolloongabba, Queensland, Australia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 105-111. Date of Electronic Publication: 2020 Oct 16.
Autor:
Gabbett MT; School of Biomedical Sciences and Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.; Genetic Health Queensland, Metro North Hospital and Health Service, Brisbane, Queensland, Australia., Jeavons CJ; Genetic Health Queensland, Metro North Hospital and Health Service, Brisbane, Queensland, Australia.; Department of Medical Imaging, Children's Health Queensland, Brisbane, Queensland, Australia., Gray PH; Newborn Services, Mater Health Services, Brisbane, Queensland, Australia.; Mater Medical Research Institute, Brisbane, Queensland, Australia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 768-772. Date of Electronic Publication: 2020 Jan 24.
Autor:
Gabbett MT; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Laporte J; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Sekar R; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Nandini A; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., McGrath P; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Sapkota Y; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Jiang P; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Zhang H; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Burgess T; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Montgomery GW; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Chiu R; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.)., Fisk NM; From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.).
Publikováno v:
The New England journal of medicine [N Engl J Med] 2019 Feb 28; Vol. 380 (9), pp. 842-849.
Autor:
Newson AJ; The University of Sydney,Faculty of Medicine and Health,Sydney School of Public Health,Sydney Health Ethics,Sydney,New South Wales,Australia., Ayres S; Victorian Clinical Genetics Services,Murdoch Children's Research Institute,Melbourne,Victoria,Australia., Boyle J; Genetics of Learning Disability Service,Waratah,New South Wales,Australia., Gabbett MT; Institute of Health and Biomedical Innovation & School of Biomedical Sciences,Queensland University of Technology,Brisbane,Queensland,Australia., Nisselle A; Australian Genomics Health Alliance,Melbourne,Victoria,Australia.
Publikováno v:
Twin research and human genetics : the official journal of the International Society for Twin Studies [Twin Res Hum Genet] 2018 Dec; Vol. 21 (6), pp. 533-537. Date of Electronic Publication: 2018 Nov 21.
Autor:
Crawford J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Bower NI; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Hogan BM; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia., Taft RJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.; Illumina, Inc., San Diego, California.; School of Medicine and Health, The George Washington University, Washington, District of Columbia., Gabbett MT; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.; School of Medicine, The University of Queensland, Brisbane, Queensland, Australia., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia. julie.mcgaughran@health.qld.gov.au.; School of Medicine, The University of Queensland, Brisbane, Queensland, Australia. julie.mcgaughran@health.qld.gov.au., Simons C; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2694-7. Date of Electronic Publication: 2016 Jun 27.
Autor:
Zaharieva IT; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Thor MG; 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Oates EC; 3 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Westmead, New South Wales, 2145, Australia 4 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia., van Karnebeek C; 5 Department of Pediatrics, Child and Family Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 4480 Oak Street, Vancouver, B.C. V6H 3V4, Canada., Hendson G; 4 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia., Blom E; 5 Department of Pediatrics, Child and Family Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 4480 Oak Street, Vancouver, B.C. V6H 3V4, Canada., Witting N; 8 Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, DK2100 Copenhagen, Denmark., Rasmussen M; 9 Department of Clinical Neuroscience for Children, Oslo University Hospital, 0424, Oslo, Norway 10 Unit for Hereditary Neuromuscular Disorders, Oslo University Hospital, 0424, Oslo, Norway., Gabbett MT; 11 Genetic Health Queensland, Royal Brisbane & Women's Hospital & Griffith University, Brisbane, Australia., Ravenscroft G; 12 The Harry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Perth, 6009, Western Australia, Australia., Sframeli M; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Suetterlin K; 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Sarkozy A; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., D'Argenzio L; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Hartley L; 13 Department of Child Health, University Hospital Wales, Cardiff, CF14 4XW, UK., Matthews E; 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Pitt M; 14 Neurophysiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK., Vissing J; 8 Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, DK2100 Copenhagen, Denmark., Ballegaard M; 15 Department of Clinical Neurophysiology, Rigshospitalet, University of Copenhagen, DK2100 Copenhagen, Denmark., Krarup C; 15 Department of Clinical Neurophysiology, Rigshospitalet, University of Copenhagen, DK2100 Copenhagen, Denmark., Slørdahl A; 16 Children's Clinic, St.Olavs hospital, Trondheim University Hospital, 7006 Trondheim, Norway., Halvorsen H; 17 Department of Pathology, University Hospital of North Norway, 9038 Tromsø, Norway., Ye XC; 5 Department of Pediatrics, Child and Family Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 4480 Oak Street, Vancouver, B.C. V6H 3V4, Canada., Zhang LH; 5 Department of Pediatrics, Child and Family Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 4480 Oak Street, Vancouver, B.C. V6H 3V4, Canada., Løkken N; 8 Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, DK2100 Copenhagen, Denmark., Werlauff U; 18 The Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus, 8000 Denmark., Abdelsayed M; 19 Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, V5A 1S6, Canada., Davis MR; 20 Department Molecular Genetics, Pathwest, QEII Medical Centre, Nedlands 6009, Western Australia, Australia., Feng L; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Phadke R; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Sewry CA; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK., Morgan JE; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Laing NG; 12 The Harry Perkins Institute of Medical Research, Centre for Medical Research, The University of Western Australia, Perth, 6009, Western Australia, Australia., Vallance H; 5 Department of Pediatrics, Child and Family Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 4480 Oak Street, Vancouver, B.C. V6H 3V4, Canada., Ruben P; 19 Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, V5A 1S6, Canada., Hanna MG; 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Lewis S; 5 Department of Pediatrics, Child and Family Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, 4480 Oak Street, Vancouver, B.C. V6H 3V4, Canada., Kamsteeg EJ; 21 Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands., Männikkö R; 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Muntoni F; 1 Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK f.muntoni@ucl.ac.uk.
Publikováno v:
Brain : a journal of neurology [Brain] 2016 Mar; Vol. 139 (Pt 3), pp. 674-91. Date of Electronic Publication: 2015 Dec 22.
Autor:
Gabbett MT; Royal Brisbane & Women's Hospital,Metro North Hospital and Health Service,Genetic Health Queensland,Herston,Queensland,Australia.
Publikováno v:
Twin research and human genetics : the official journal of the International Society for Twin Studies [Twin Res Hum Genet] 2015 Apr; Vol. 18 (2), pp. 225. Date of Electronic Publication: 2015 Mar 13.