Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Knowles CV"'
Autor:
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 967.
Autor:
Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.
Autor:
Reimann J; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Lehmann D; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Hardy SA; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Falkous G; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Jones RL; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Kunz WS; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Taylor RW; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Kornblum C; Department of Neurology (J.R., C.K.), Department of Epileptology (W.S.K.), Life and Brain Centre (W.S.K.), and Centre for Rare Diseases Bonn (ZSEB) (C.K.), University Hospital of Bonn, Germany; Department of Neurology (D.L.), University of Halle/S., Germany; and Wellcome Trust Centre for Mitochondrial Research (D.L., S.A.H., G.F., C.V.Y.K., R.L.J., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2017 Apr 05; Vol. 3 (3), pp. e147. Date of Electronic Publication: 2017 Apr 05 (Print Publication: 2017).
Autor:
Schoeman EM; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa., Van Der Westhuizen FH; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa., Erasmus E; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa., van Dyk E; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa., Knowles CV; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Al-Ali S; Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Department of Biology, College of Science, University of Basrah, Basrah, Iraq., Ng WF; Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Newton JL; Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Elson JL; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Joanna.elson@ncl.ac.uk.; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK. Joanna.elson@ncl.ac.uk.
Publikováno v:
BMC medical genetics [BMC Med Genet] 2017 Mar 16; Vol. 18 (1), pp. 29. Date of Electronic Publication: 2017 Mar 16.