Zobrazeno 1 - 10
of 146
pro vyhledávání: '"van Hasselt PM"'
Autor:
Kok, G, Schene, IF, Nikkels, PGJ, van Gassen, KLI, Terheggen-Lagro, Suzanne W.J., van der Crabben, SN, Hoeks, Sanne B. E. A., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, RHJ, Mulder, Margot F., van Hasselt, PM, Fuchs, SA
24. MISCELLANEOUS / NEW DISEASE GROUP : Oral / Poster
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10691::12be26d4c062625038d032405bfa8129
https://dspace.library.uu.nl/handle/1874/375710
https://dspace.library.uu.nl/handle/1874/375710
Autor:
Cuperus, Edwin, van Montfrans, JM, van Hasselt, PM, van der Smagt, JJ, Sigurdsson, V, Dijk, Matthijs, van Gijn, ME, Pasmans, Suzanne
Publikováno v:
Nederlands Tijdschrift voor Dermatologie & Venereologie, 25(2), 70-76. DCHG Partners in Mediscne Communicatie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::39417d737f43cb1e6cf68f13802449a7
https://pure.eur.nl/en/publications/35049126-877a-498e-a783-6c20463cb922
https://pure.eur.nl/en/publications/35049126-877a-498e-a783-6c20463cb922
Autor:
Winter, JP, Joosten, Koen, IJland, MM, Verkade, HJ, Offringa, M (Martin), Dorrius, MD, van Hasselt, PM
Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 155:A936. Bohn Stafleu van Loghum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e0364f4a5fa679efc4cbb4b6736c44e7
https://pure.eur.nl/en/publications/86e0d840-a7b5-43a1-bd9e-31fe937120cc
https://pure.eur.nl/en/publications/86e0d840-a7b5-43a1-bd9e-31fe937120cc
Akademický článek
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Autor:
van Hasselt, PM, de Vries, W, de Vries, E, Kok, K, Cranenburg, ECM, de Koning, TJ, Schurgers, LJ, Verkade, HJ, Houwen, RHJ
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition; December 2010, Vol. 51 Issue: 6 p773-776, 4p
Autor:
van Hasselt PM, de Koning TJ, Kvist N, de Vries E, Lundin CR, Berger R, Kimpen JL, Houwen RH, Jorgensen MH, Verkade HJ, Netherlands Study Group for Biliary Atresia Registry
Publikováno v:
Pediatrics; Apr2008, Vol. 121 Issue 4, pe857-63, 1p
Autor:
Rumping, Lynne
Inborn Errors of Metabolism (IEMs) are a class of inherited genetic disorders caused by variants in genes coding for proteins that function in metabolism. The research presented in this thesis describes the identification and disease mechanisms of tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aa379f8ee54c9ea3a5b3d29849c0fce6
https://dspace.library.uu.nl/handle/1874/379706
https://dspace.library.uu.nl/handle/1874/379706
Autor:
Al-Saady ML; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands., Galabova H; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands., Schoenmakers DH; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Medicine for Society, Platform at Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Beerepoot S; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Center for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.; Nierkens and Lindemans group, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Lindemans C; Pediatric blood and Bone marrow transplantation, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands., van der Knaap MS; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands., Pouwels PJW; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Vrije Universiteit & Universiteit van Amsterdam, Amsterdam, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 792-804. Date of Electronic Publication: 2024 Mar 02.
Autor:
Ayuso-García P; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Sánchez-Rueda A; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Velasco-Avilés S; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Tamayo-Caro M; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Ferrer-Pinós A; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Huarte-Sebastian C; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Alvarez V; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Riobello C; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Jiménez-Vega S; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Buendia I; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain.; Laboratory of Neurobiology, Achucarro Basque Center for Neuroscience, Science Park of UPV/EHU, Sede building, 48940 Leioa, Spain., Cañas-Martin J; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Fernández-Susavila H; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Aparicio-Rey A; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Esquinas-Román EM; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Ponte CR; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain., Guhl R; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain.; Université Paris Cité Magistère Européen de Génétique, 85 Boulevard Saint-Germain, 75006 Paris, France., Laville N; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain.; Université Paris Cité Magistère Européen de Génétique, 85 Boulevard Saint-Germain, 75006 Paris, France., Pérez-Andrés E; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Lavín JL; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain.; NEIKER-Basque Institute for Agricultural Research and Development, Applied Mathematics Department, Bioinformatics Unit, Basque Research and Technology Alliance (BRTA), 48160 Derio, Bizkaia, Spain., González-Lopez M; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Cámara NM; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Aransay AM; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, Spain., Lozano JJ; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, Spain., Sutherland JD; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Barrio R; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Martinez-Chantar ML; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto de Salud Carlos III, Madrid, Spain., Azkargorta M; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Elortza F; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain., Soriano-Navarro M; Electron Microscopy Core Facility, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain., Matute C; Laboratory of Neurobiology, Achucarro Basque Center for Neuroscience, Science Park of UPV/EHU, Sede building, 48940 Leioa, Spain.; Department of Neurosciences, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 28031 Madrid, Spain., Sánchez-Gómez MV; Laboratory of Neurobiology, Achucarro Basque Center for Neuroscience, Science Park of UPV/EHU, Sede building, 48940 Leioa, Spain.; Department of Neurosciences, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 28031 Madrid, Spain., Bayón-Cordero L; Laboratory of Neurobiology, Achucarro Basque Center for Neuroscience, Science Park of UPV/EHU, Sede building, 48940 Leioa, Spain.; Department of Neurosciences, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 28031 Madrid, Spain., Pérez-Samartín A; Laboratory of Neurobiology, Achucarro Basque Center for Neuroscience, Science Park of UPV/EHU, Sede building, 48940 Leioa, Spain.; Department of Neurosciences, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), 28031 Madrid, Spain., Bravo SB; Proteomic Unit, Health Research Institute of Santiago de Compostela (IDIS), 15705 Santiago de Compostela, A Coruña, Spain., Kurz T; Evotec SE, Innovation Dr, Milton, Abingdon OX14 4RT, UK and School of Molecular Biosciences, University of Glasgow, Glasgow G12 8QQ, UK., Lama-Díaz T; DNA Repair and Genome Integrity Laboratory, CIMUS, University of Santiago de Compostela-Instituto de Investigación Sanitaria, 15706 Santiago de Compostela, A Coruña, Spain., Blanco MG; DNA Repair and Genome Integrity Laboratory, CIMUS, University of Santiago de Compostela-Instituto de Investigación Sanitaria, 15706 Santiago de Compostela, A Coruña, Spain.; Department of Biochemistry and Molecular Biology, University of Santiago de Compostela, Plaza do Obradoiro s/n, Santiago de Compostela, Spain., Haddad S; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., van Hasselt PM; Department of Metabolic Diseases, Division Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University, 3584 EA, Utrecht, Netherlands., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Varela-Rey M; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain.; Department of Biochemistry and Molecular Biology, University of Santiago de Compostela, Plaza do Obradoiro s/n, Santiago de Compostela, Spain., Woodhoo A; Gene Regulatory Control in Disease Laboratory, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), University of Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain.; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160 Derio, Spain.; IKERBASQUE, Basque Foundation for Science, 48009 Bilbao, Bizkaia, Spain.; Department of Functional Biology, University of Santiago de Compostela, Plaza do Obradoiro s/n, Santiago de Compostela, Spain.; Oportunius Research Professor at CIMUS/USC, Galician Agency of Innovation (GAIN), Xunta de Galicia, Santiago de Compostela, A Coruña, Spain.
Publikováno v:
Science advances [Sci Adv] 2024 Apr 12; Vol. 10 (15), pp. eadm7600. Date of Electronic Publication: 2024 Apr 12.
Autor:
Bhat S; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada., Rousseau J; Centre de Recherche Du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, QC H3T 1C5, Canada., Lourenço CM; Charles Marques Lourenço, Centro Universitário Estácio de Ribeirão Preto, São Paulo, Brazil., Stoler JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Clarkson LK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Lichty A; Greenwood Genetic Center, Greenwood, SC 29646, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA., Reshmi SC; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Sisodiya SM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Hoytema van Konijnenburg EMM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Koop K; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., van Hasselt PM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, the Netherlands., Démurger F; Service de Génétique, CHBA, 56000 Vannes, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Université de Rennes, CNRS, IGDR, UMR 6290 Rennes, France., Sullivan BR; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Hughes SS; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Thiffault I; Departments of Pediatrics and of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Tremblay ES; Department of Neurology and Neurosurgery, McGill University Health Centre, Montréal, QC, Canada; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montréal, QC, Canada., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montréal, QC, Canada; Department of Human Genetics, Faculty of Medicine, McGill University, Montral, QC H3A 1B1, Canada., Srour M; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montréal, QC, Canada; Department of Human Genetics, Faculty of Medicine, McGill University, Montral, QC H3A 1B1, Canada., Blunck R; Center for Interdisciplinary Research on Brain and Learning (CIRCA), Department of Physics and Department of Pharmacology and Physiology, Université de Montréal, Montréal, QC, Canada. Electronic address: rikard.blunck@umontreal.ca., Campeau PM; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada. Electronic address: p.campeau@umontreal.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 761-777. Date of Electronic Publication: 2024 Mar 18.