Zobrazeno 1 - 10
of 1 548
pro vyhledávání: '"van Koningsbruggen, S."'
Autor:
Lehalle, D., Vabres, P., Bierhals, T., Cho, M. T., Cogne, B., Avila, M., Carmignac, V., Duplomb-Jego, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal-Valevski, A., Genevieve, D., Guimier, A., Harris, D., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Lichtenbelt, K., Ramey, V. Loik, Pasquier, L., St-Onge, J., Sorlin, A., Thevenon, J., Torti, E., Van Gassen, K., Van Haelst, M., van Koningsbruggen, S., Riviere, J., Thauvin, C., Betschinger, J., Faivre, L.
Publikováno v:
Lehalle, D, Vabres, P, Bierhals, T, Cho, M T, Cogne, B, Avila, M, Carmignac, V, Duplomb-Jego, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal-Valevski, A, Genevieve, D, Guimier, A, Harris, D, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Lichtenbelt, K, Ramey, V L, Pasquier, L, St-Onge, J, Sorlin, A, Thevenon, J, Torti, E, Van Gassen, K, Van Haelst, M, van Koningsbruggen, S, Riviere, J, Thauvin, C, Betschinger, J & Faivre, L 2019, ' De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', European Journal of Human Genetics, vol. 27, pp. 1094-1094 .
European Journal of Human Genetics, 27, 1094-1094. Nature Publishing Group
European Journal of Human Genetics, 27, 1094-1094. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4fe488a89bd4c637dfa6db87d369dbd
https://research.vumc.nl/en/publications/32f4f126-1635-4054-a78d-8f2c1e76300a
https://research.vumc.nl/en/publications/32f4f126-1635-4054-a78d-8f2c1e76300a
Autor:
Lakeman, P., van Koningsbruggen, S., Redeker, E. J. W., Ottenheim, C. P. E., Mathijssen, I. B., Cornel, M. C., Mannens, M. M. A. M., Meijers-Heijboer, E. J., Henneman, L.
Publikováno v:
Lakeman, P, van Koningsbruggen, S, Redeker, E J W, Ottenheim, C P E, Mathijssen, I B, Cornel, M C, Mannens, M M A M, Meijers-Heijboer, E J & Henneman, L 2018, ' Evaluation of an expanded carrier screening offer in a non commercial setting ', European Journal of Human Genetics, vol. 26, pp. 82-83 .
European Journal of Human Genetics, 26, 82-83. Nature Publishing Group
European Journal of Human Genetics, 26, 82-83. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5140b6936c4ce0fe0716b249fcc087f8
https://research.vumc.nl/en/publications/d7fe362b-7558-488e-a9c9-bcb58ad0e444
https://research.vumc.nl/en/publications/d7fe362b-7558-488e-a9c9-bcb58ad0e444
Autor:
Verhoeven D; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Schonenberg-Meinema D; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Baars PA; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Leeuwen EMM; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Jansen MH; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Lankester AC; Department of Pediatrics, Pediatric Stem Cell Transplantation Program, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden University, Leiden, The Netherlands., van der Burg M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden University, Leiden, The Netherlands., Florquin S; Department of Pathology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Maas SM; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., van den Berg JM; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: t.w.kuijpers@amsterdamumc.nl.
Publikováno v:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2022 Mar; Vol. 149 (3), pp. 1120-1127.e8. Date of Electronic Publication: 2021 Aug 17.
Autor:
van de Burgt N; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands. Electronic address: nikita.vdburgt@maastrichtuniversity.nl., van Koningsbruggen S; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam University Medical Centre (AUMC), Amsterdam, the Netherlands., Behrens L; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam University Medical Centre (AUMC), Amsterdam, the Netherlands., Leibold N; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands., Martinez-Martinez P; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands., Mannens M; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam University Medical Centre (AUMC), Amsterdam, the Netherlands., van Amelsvoort T; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands.
Publikováno v:
Journal of psychiatric research [J Psychiatr Res] 2021 Jun; Vol. 138, pp. 125-129. Date of Electronic Publication: 2021 Apr 01.
Autor:
Ten Dam, L., de Visser, M., Ginjaar, H.B., van Duyvenvoorde, H.A., van Koningsbruggen, S., van der Kooi, A.J.
Publikováno v:
Journal of Neuromuscular Diseases; 20210101, Issue: Preprints p1-12, 12p
Autor:
Ghorai, Atanu1,2 (AUTHOR), Saha, Soumajit1 (AUTHOR), Rao, Basuthkar J.1,3 (AUTHOR) bjrao@uohyd.ac.in
Publikováno v:
Genes & Environment. 9/18/2024, Vol. 46 Issue 1, p1-12. 12p.
Autor:
Kumar, Pradeep1 (AUTHOR), Gholamalamdari, Omid1 (AUTHOR), Zhang, Yang2 (AUTHOR), Zhang, Liguo1 (AUTHOR), Vertii, Anastassiia3 (AUTHOR), van Schaik, Tom4 (AUTHOR), Peric-Hupkes, Daan4 (AUTHOR), Sasaki, Takayo5 (AUTHOR), Gilbert, David M.5 (AUTHOR), van Steensel, Bas4 (AUTHOR), Ma, Jian2 (AUTHOR), Kaufman, Paul D.3 (AUTHOR), Belmont, Andrew S.1,6,7 (AUTHOR) asbel@illinois.edu
Publikováno v:
Communications Biology. 9/13/2024, Vol. 7 Issue 1, p1-18. 18p.
Autor:
Burgess, Stuart C.1 (AUTHOR) s.c.burgess@bris.ac.uk
Publikováno v:
Biomimetics (2313-7673). Sep2024, Vol. 9 Issue 9, p529. 21p.
Autor:
Piwar, Hubert1 (AUTHOR) hubertpiwar@gmail.com, Ordak, Michal1 (AUTHOR) michal.ordak@wum.edu.pl, Bujalska-Zadrozny, Magdalena1 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9700. 16p.
Autor:
Lehalle D; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France daphne.lehalle@aphp.fr.; UF de Génétique Médicale, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Vabres P; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.; Centre de Référence MAGEC, Service de Dermatologie, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, Bourgogne, France., Sorlin A; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, Hamburg, Germany., Avila M; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Carmignac V; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Chevarin M; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Torti E; GeneDx, Gaithersburg, Maryland, USA., Abe Y; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Clayton-Smith J; Genomic Medicine, Manchester Centre for Genomic Medicine, Manchester, Manchester, UK.; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, Greater Manchester, UK., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; L'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Cusco I; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, Barcelona, Spain., Duplomb L; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., De Bont E; Department of Pediatric Oncology, Ommelander Hospital Groningen, Scheemda, Groningen, The Netherlands., Duffourd Y; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Duijkers F; Department of Genetics, Amsterdam University Medical Centres, Amsterdam, Noord-Holland, The Netherlands., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Fattal A; Pediatric Neurology Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel., Geneviève D; Departement de Génétique Medicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Guimier A; Department of Genetics, Necker-Enfants Malades Hospitals, Paris, Île-de-France, France., Harris DJ; Division of Genomics and Genetics, Boston Children s Hospital, Boston, Massachusetts, USA., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, Hamburg, Germany., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; L'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Jouan T; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Kuentz P; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.; Génétique Biologique Histologie, PCBio, Centre Hospitalier Universitaire de Besancon, Besancon, France., Koshimizu E; Department of Human Genetics, Yokohama City University School of Medicine Graduate School of Medicine, Yokohama, Kanagawa, Japan., Lichtenbelt K; Department of Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, Utrecht, The Netherlands., Loik Ramey V; Division of Genomics and Genetics, Boston Children s Hospital, Boston, Massachusetts, USA., Maik M; Hackensack Meridian Health Inc, Edison, New Jersey, USA., Miyakate S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan., Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan., Pasquier L; Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France., Pedro H; Hackensack Meridian Health Inc, Edison, New Jersey, USA., Simone L; Hackensack Meridian Health Inc, Edison, New Jersey, USA., Sondergaard-Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States., St-Onge J; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Thevenon J; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.; Département de Génétique et Procréation, CHU Grenoble Alpes, Université Grenoble Alpes, Grenoble, France., Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, Barcelona, Spain., Abou Jamra R; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Koningsbruggen S; Department of Clinical Genetics, University of Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Whelan Habela C; Department of Neurology, John M. Freeman Pediatric Epilepsy Center, Johns Hopkins Medicine, Baltimore, Maryland, USA., Zacher P; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany., Rivière JB; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.; Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada., Thauvin-Robinet C; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France., Betschinger J; Friedrich Miescher Institute for Biomedical Research, Basel, Basel-Stadt, Switzerland., Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2020 Dec; Vol. 57 (12), pp. 808-819. Date of Electronic Publication: 2020 May 14.