المؤلفون: Coenen, M J H, Gregersen, P K

المصدر: Genes & Immunity ; volume 10, issue 2, page 101-111 ; ISSN 1466-4879 1476-5470

مصطلحات موضوعية: Genetics (clinical), Genetics, Immunology

الإتاحة: https://doi.org/10.1038/gene.2008.77Test
https://www.nature.com/articles/gene200877.pdfTest
https://www.nature.com/articles/gene200877Test

المؤلفون: Broekman, M M T J, Wong, D R, Wanten, G J A, Roelofs, H M, van Marrewijk, C J, Klungel, O H, Verbeek, A L M, Hooymans, P M, Guchelaar, H-J, Scheffer, H, Derijks, L J J, Coenen, M J H, de Jong, D J

المصدر: The Pharmacogenomics Journal ; volume 18, issue 1, page 160-166 ; ISSN 1470-269X 1473-1150

مصطلحات موضوعية: Pharmacology, Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.1038/tpj.2016.87Test
http://www.nature.com/articles/tpj201687.pdfTest
http://www.nature.com/articles/tpj201687Test

المؤلفون: Hagleitner, M M, Coenen, M J H, Aplenc, R, Patiño-Garcia, A, Chiusolo, P, Gemmati, D, De Mattei, M, Ongaro, A, Krajinovic, M, Hoogerbrugge, P M, Vermeulen, S H H M, te Loo, D M W M

المصدر: The Pharmacogenomics Journal ; volume 14, issue 2, page 115-119 ; ISSN 1470-269X 1473-1150

مصطلحات موضوعية: Pharmacology, Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.1038/tpj.2013.19Test
https://www.nature.com/articles/tpj201319.pdfTest
https://www.nature.com/articles/tpj201319Test

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Peters, Sophia, Paramonov, Ida, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vitobello, Antonio, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Banka, Siddharth, Benetti, Elisa, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kleefstra, Tjitske, Lindstrand, Anna, López-Martín, Estrella, Macek, Milan, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zurek, Birte, Trimouille, Aurélien, Vissers, Lisenka E. L. M.

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), European Research Council, Evelyn Trust, Newton Fund, European Project: 825619,AI4EU, Dutch Research Council (Holanda), Medical Research Council (Reino Unido), Lily Foundation, Unión Europea. Comisión Europea. H2020, Ockeloen, Charlotte W [0000-0003-0329-1520], Horvath, Rita [0000-0002-9841-170X], Rodenburg, Richard J [0000-0001-5227-3527], Gilissen, Christian [0000-0003-1693-9699], Steyaert, Wouter [0000-0001-8393-0788], Trimouille, Aurélien [0000-0002-3457-5684], Verloes, Alain [0000-0003-4819-0264], Vissers, Lisenka ELM [0000-0001-6470-5497], Apollo - University of Cambridge Repository, de Boer, E., Ockeloen, C. W., Matalonga, L., Horvath, R., Rodenburg, R. J., Coenen, M. J. H., Janssen, M., Henssen, D., Gilissen, C., Steyaert, W., Paramonov, I., Trimouille, A., Kleefstra, T., Verloes, A., Vissers, L. E. L. M., Nigro, V., Torella, A., Banfi, S.

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00900-2⟩
European Journal of Human Genetics, 29, 1359-1368
Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00900-2⟩
European Journal of Human Genetics, 29, 9, pp. 1359-1368

مصطلحات موضوعية: Male, Proband, Mitochondrial DNA, RNA, Transfer, Leu, Brief Communication, Quadriplegia, Whole Exome Sequencing, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Genetics research, Intellectual disability, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Neurodevelopmental disorders, 030305 genetics & heredity, Correction, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Translational research, medicine.disease, Heteroplasmy, 3. Good health, MT-TL1, Mutation, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Spastic tetraparesis, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Neurological disorders, 030217 neurology & neurosurgery

وصف الملف: application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672d906db6b9eae87ba6291c9386c025Test
https://doi.org/10.1038/s41431-021-00900-2Test