Zobrazeno 1 - 10
of 1 634
pro vyhledávání: '"Risom, L."'
Autor:
Lildballe DL; Department Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Frederiksen AL; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Schönewolf-Greulich B; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lautrup CK; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Karstensen HG; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark., Pedersen IS; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark., Sunde L; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rasmussen M; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark., Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rendtorff ND; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gregersen PA; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Boonen SE; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Lindquist SG; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark; Neurogenetics Clinic and Research Lab, Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Denmark., Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Epilepsy Genetics and Personalized Medicine. Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark. Electronic address: Birgitte.rode.diness@regionh.dk.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2023 Dec; Vol. 66 (12), pp. 104872. Date of Electronic Publication: 2023 Nov 13.
Autor:
Hildonen M; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Hjortshøj TD; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Dunø M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Ek J; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 688-692. Date of Electronic Publication: 2023 Feb 06.
Autor:
Folkmann JK (AUTHOR), Risom L (AUTHOR), Jacobsen NR (AUTHOR), Wallin H (AUTHOR), Loft S (AUTHOR), Møller P (AUTHOR)
Publikováno v:
Environmental Health Perspectives. May2009, Vol. 117 Issue 5, p703-708. 6p.
Autor:
Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Mohammed SEM; Department of Biomedical Sciences, Institute of Physiology, Pathophysiology and Biophysics, University of Veterinary Medicine Vienna, Vienna 1210, Austria., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena 07747, Germany; Center for Rare Diseases, Jena University Hospital, Jena 07747, Germany., Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Alahmad A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; Kuwait Medical Genetics Centre, Al-Sabah Medical Area 80901, Kuwait., Dutra-Clarke M; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, the University of California at Los Angeles, Los Angeles, CA 90095, USA., Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark., Sudarsanam A; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Arrigoni F; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan 20154, Italy., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK., Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria., Bernardi P; Department of Biomedical Sciences, University of Padova, Via Ugo Bassi 58/B, Padova 35131, Italy., Zulian A; Department of Biomedical Sciences, University of Padova, Via Ugo Bassi 58/B, Padova 35131, Italy., Gusic M; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich 81675, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Bai R; GeneDx Inc, Gaithersburg, MD 20877, USA., Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi 44000, Pakistan., Horga A; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clinico San Carlos and San Carlos Health Research Institute (IdISSC), Madrid 28040, Spain., Martinez-Agosto JA; Department of Human Genetics, Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lam A; Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, WC1N 3BG London, UK., Manole A; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Rodriguez DP; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK., Durigon R; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK., Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK., Albash B; Kuwait Medical Genetics Centre, Al-Sabah Medical Area 80901, Kuwait., Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Bugiardini E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Allis K; GeneDx Inc, Gaithersburg, MD 20877, USA., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy., Reipert S; Core Facility of Cell Imaging and Ultrastructure Research, University of Vienna, Djerassiplatz 1, 1030 Wien, Austria., Risom L; Department of Genetics, Copenhagen University Hospital Rigshospitalet Blegdamsvej, Copenhagen 2100, Denmark., Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany., Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Vilarinho L; Unit of Neonatal Screening, Metabolism and Genetics, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, Porto 4000-055, Portugal., Hanna M; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria., Bertini ES; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet Blegdamsvej, Copenhagen 2100, Denmark; Institute for Clinical Medicine, University of Copenhagen, Copenhagen 2200, Denmark., Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen 6525 EZ, the Netherlands., Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy., Haack TB; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen 72076, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Spinazzola A; Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London WC1N 3BG, UK., Nowikovsky K; Department of Biomedical Sciences, Institute of Physiology, Pathophysiology and Biophysics, University of Veterinary Medicine Vienna, Vienna 1210, Austria; Department of Internal Medicine I, ASCTR and Comprehensive Cancer Center, Medical University of Vienna, Vienna 1090, Austria. Electronic address: karin.nowikovsky@vetmeduni.ac.at., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1692-1712.
Autor:
Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Oksjoki R; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Farholt S; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.; Center for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Nielsen DG; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Christensen AH; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Center for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Fagerberg CR; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gregersen PA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Christensen MB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rasmussen TB; Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte and Rigshospitalet, Copenhagen, Denmark., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 191-200. Date of Electronic Publication: 2022 Jul 04.
Autor:
Ishiniwa, Hiroko1,2 (AUTHOR), Okano, Tsukasa3 (AUTHOR), Endoh, Daiji4 (AUTHOR), Hirayama, Hideo5 (AUTHOR), Yoshioka, Akira6 (AUTHOR), Yokohata, Yasushi7 (AUTHOR), Shindo, Junji8 (AUTHOR), Koshimoto, Chihiro9 (AUTHOR), Shinohara, Akio9 (AUTHOR), Sakamoto, Shinsuke H.9,10 (AUTHOR), Tamaoki, Masanori11 (AUTHOR), Onuma, Manabu1,11 (AUTHOR) monuma@nies.go.jp
Publikováno v:
Scientific Reports. 11/29/2024, Vol. 14 Issue 1, p1-12. 12p.
Publikováno v:
European Archives of Paediatric Dentistry (Springer Science & Business Media B.V.); Jun2019, Vol. 20 Issue 3, p295-300, 6p, 1 Color Photograph, 3 Black and White Photographs
Autor:
Rosengren T; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Nanhoe S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., de Almeida LGD; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil., Schönewolf-Greulich B; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Larsen LJ; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Hey CAB; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Dunø M; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Ek J; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Risom L; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark., Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Møller LB; Clinical Genetics Clinic, Copenhagen University Hospital, Rigshospitalet. Address 1: Kennedy Center, Gl landevej 7, DK-2600, Glostrup, Denmark. Address 2: 4062, Blegdamsvej 9, DK-2100, Østerbro, Denmark. Lisbeth.Birk.Moeller@regionh.dk.
Publikováno v:
Scientific reports [Sci Rep] 2020 Jun 18; Vol. 10 (1), pp. 9909. Date of Electronic Publication: 2020 Jun 18.
Autor:
Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Denmark. Electronic address: lisega@rm.dk., Handrup MM; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Denmark., Irving M; Guy's and St Thomas NHS Trust, London, UK., Hove H; Centre for Rare Diseases, Copenhagen University Hospital, Denmark., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital, Denmark., Svaneby D; Department of Clinical Genetics, Hospital Lillebaelt, Denmark., Aagaard MM; Department of Clinical Genetics, Hospital Lillebaelt, Denmark., Vogel I; Department of Clinical Genetics, Aarhus University Hospital, Denmark., Gjørup H; Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark., Davidsen M; Department of Orthopaedic Surgery Aarhus University Hospital, Denmark., Hellfritzsch MB; Department of Radiology, Aarhus University Hospital, Denmark., Lauridsen E; Resourcecenter for Rare Oral Diseases, Copenhagen University Hospital, Denmark., Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Denmark.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2020 Feb; Vol. 63 (2), pp. 103650. Date of Electronic Publication: 2019 Apr 11.
Autor:
Pino, Juan Sebastian1 (AUTHOR) juan.pino@udea.edu.co, Alvarado, Pedro Nel2 (AUTHOR), Rojas, Winston1 (AUTHOR), Cacua, Karen2 (AUTHOR), Gomez-Lopera, Natalia3 (AUTHOR) natalia.gomezl@udea.edu.co
Publikováno v:
Energies (19961073). Sep2024, Vol. 17 Issue 18, p4646. 29p.