Zobrazeno 1 - 10
of 36
pro vyhledávání: '"van der Linde HC"'
Autor:
Bertoli-Avella, Am, Giroud-Benitez, Jl, Akyol, A, Barbosa, E, Schaap, O, van der Linde HC, Martignoni, E, Lopiano, L, Lamberti, P, Fincati, E, Antonini, A, Stocchi, F, Montagna, P, Squitieri, F, Marini, P, Abbruzzese, G, Fabbrini, G, Marconi, R, Dalla Libera, A, Trianni, G, Guidi, M, De Gaetano, A, Boff Maegawa, G, De Leo, A, Gallai, V, de Rosa, G, Vanacore, N, Meco, G, van Duijn CM, Oostra, Ba, Heutink, P, Bonifati, V, Fabrizio, E, Locuratolo, N, Martini, L, Vacca, L, De Pandis, F, Colosimo, C, Manfredi, M, Tavella, A, Bergamasco, B, Tassorelli, C, Pacchetti, C, Nappi, G, Goldwurm, S, Pezzoli, G, Calandrella, D, Riboldazzi, G, Ferrari, G, Tarletti, R, Cantello, R, Marchese, R, Scaglione, C, Martinelli, P, Massaro, F, Minardi, C, Rasi, F, Lanari, A, Brustenghi, P, Cannella, M, de Mari, M, di Roma, C, Iliceto, G, Toni, V, Coppola, G, Mauro, A, Chien, Shf, Dutra, Ap, Nagahashi, Sk, Jardim, L, Rieder, C, Kiylioglu, N, Temocin, K, Ulucan, H.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::5be2d60b9d266e14813b1c7d576ec836
http://hdl.handle.net/11567/206552
http://hdl.handle.net/11567/206552
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Medico-Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ramakrishnan R; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kühn NA; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lor-Zade S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Shi Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Capo I; Department for Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia., van den Herik EM; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Mulder MT; Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Ruijter GJG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany., Jacobs EH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK., De Simone L; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Schwaede A; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Kuntz N; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA., Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, USA., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., AlMuhaizea M; Neuroscience Centre, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 76, Riyadh, 11211, Saudi Arabia., Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 03, Riyadh, 11211, Saudi Arabia., AlQudairy H; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia., Alsagob M; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Applied Genomics Technologies Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia., Pereira C; CENTOGENE, GmbH, 18055, Rostock, Germany., Trunzo R; CENTOGENE, GmbH, 18055, Rostock, Germany., Karageorgou V; CENTOGENE, GmbH, 18055, Rostock, Germany., Bertoli-Avella AM; CENTOGENE, GmbH, 18055, Rostock, Germany., Bauer P; CENTOGENE, GmbH, 18055, Rostock, Germany., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Issa M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Gleeson JG; Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine, San Diego, USA., Willemsen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kaya N; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia., Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2023 Aug; Vol. 146 (2), pp. 353-368. Date of Electronic Publication: 2023 Apr 29.
Autor:
Zada A; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., Zhao Y; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands.; Department of Pediatric Surgery, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China., Halim D; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., Windster J; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands.; Department of Pediatric Surgery, Erasmus University Medical Center Rotterdam, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., Glodener J; Department of Biology, Rollins Research Center, Emory University, Atlanta, GA 30322, USA., Overkleeft S; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., de Graaf BM; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., Verdijk RM; Department of Pathology, Erasmus University Medical Center, Rotterdam 3015GD, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands., Shepherd I; Department of Biology, Rollins Research Center, Emory University, Atlanta, GA 30322, USA., Gao Y; Department of Pediatric Surgery, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China., Burns AJ; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands.; Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Hofstra RMW; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands.; Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Alves MM; Department of Clinical Genetics, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam 3015GD, The Netherlands.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Jan 01; Vol. 32 (1), pp. 151-160.
Autor:
Berdowski WM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Breur M; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Department of Pathology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands., Oosterhof N; European Research Institute for the Biology of Ageing (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Beerepoot S; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., Sanderson L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Wijnands LI; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., de Jong P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., Tsai-Meu-Chong E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., de Valk W; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands., de Witte M; Hematology Department, University Medical Center, Utrecht, The Netherlands., van IJcken WFJ; Center for Biomics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Demmers J; Proteomics Center, Erasmus University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., Bugiani M; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Department of Pathology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam University Medical Centers, Vrije Universiteit, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands. t.vanham@erasmusmc.nl.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2022 Aug; Vol. 144 (2), pp. 211-239. Date of Electronic Publication: 2022 Jun 17.
Autor:
Riemslagh FW; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., Verhagen RFM; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., van der Toorn EC; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., Quint WH; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands., Willemsen R; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3000 CA, Rotterdam, The Netherlands.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2021 Nov 01; Vol. 14 (11). Date of Electronic Publication: 2021 Dec 01.
Autor:
Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Salsench EM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Perenthaler E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Mulugeta E; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands. e.mulugeta@erasmusmc.nl., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
Publikováno v:
Genome medicine [Genome Med] 2021 Oct 19; Vol. 13 (1), pp. 162. Date of Electronic Publication: 2021 Oct 19.