학술논문
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'학술논문'
에서 검색결과 49건 | 목록
1~20
Academic Journal
de Wit, M C; Bunnik, E M; Go, A T J I; de Beaufort, I D; Hofstra, R M W; Steegers, E A P; Galjaard, R J H
Prenatal Diagnosis; Dec2017, Vol. 37 Issue 12, p1360-1363, 4p
Academic Journal
Kate, C A Ten; Brouwer, R W W; Bever, Y van; Martens, V K; Brands, T; Beelen, N W G van; Brooks, A S; Huigh, D; Eussen, H; IJcken, W F J van; IJsselstijn, H; Tibboel, D; Wijnen, R M H; Klein, A de; Hofstra, R M W; Brosens, E
Academic Journal
Kuil LE; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Chauhan RK; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; de Graaf BM; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Cheng WW; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Kakiailatu NJM; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Lasabuda R; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Verhaeghe C; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Windster JD; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands; Department of Pediatric Surgery, Erasmus University Medical Center Rotterdam, Sophia's Children's Hospital, Rotterdam, the Netherlands.; Schriemer D; Department of Biomedical Sciences of Cells and Systems, Section Molecular Neurobiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Azmani Z; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Edie S; Johns Hopkins University School of Medicine, Department of Physiology and McKusick-Nathans Department of Genetic Medicine, Baltimore, MD, United States of America.; Reeves RH; Johns Hopkins University School of Medicine, Department of Physiology and McKusick-Nathans Department of Genetic Medicine, Baltimore, MD, United States of America.; Eggen BJL; Department of Biomedical Sciences of Cells and Systems, Section Molecular Neurobiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Shepherd IT; Department of Biology, Emory University, Atlanta, GA, United States of America.; Burns AJ; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands; Birth Defects Research Centre, UCL Institute of Child Health, London, United Kingdom; Gastrointestinal Drug Discovery Unit, Takeda Pharmaceuticals, Cambridge, MA, United States of America.; Hofstra RMW; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Melotte V; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands; Department of Pathology, GROW-school for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.; Brosens E; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands.; Alves MM; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam - Sophia Children's Hospital, Rotterdam, the Netherlands; Department of Pediatric Surgery, Erasmus University Medical Center Rotterdam, Sophia's Children's Hospital, Rotterdam, the Netherlands. Electronic address: m.alves@erasmusmc.nl.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE
Academic Journal
Bergman, J E H; Janssen, N; Hoefsloot, L H; Jongmans, M C J; Hofstra, R M W; van Ravenswaaij-Arts, C M A
Journal of Medical Genetics. May 01, 2011 48(5):334-342
Academic Journal
Amiel, J; Sproat-Emison, E; Garcia-Barcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, A S; Antinolo, G; de Pontual, L; Clement-Ziza, M; Munnich, A; Kashuk, C; West, K; Wong, K-Y K; Lyonnet, S; Chakravarti, A; Tam, K-H P; Ceccherini, I; Hofstra, R M W; Fernandez, R
Journal of Medical Genetics. Jan 01, 2008 45(1):1-14
Academic Journal
Niessen, R C; Berends, M J W; Wu, Y; Sijmons, R H; Hollema, H; Ligtenberg, M J L; de Walle, H E K; de Vries, E G E; Karrenbeld, A; Buys, C H C M; van der Zee, A G J; Hofstra, R M W; Kleibeuker, J H
GUT. Dec 01, 2006 55(12):1781-1788
Academic Journal
Brooks, A S; Leegwater, P A; Burzynski, G M; Willems, P J; de Graaf, B; van Langen, I; Heutink, P; Oostra, B A; Hofstra, R M W; Bertoli-Avella, A M
JOURNAL OF MEDICAL GENETICS. Jul 01, 2006 43(7):e35-e35
Academic Journal
Domingo, E; Laiho, P; Ollikainen, M; Pinto, M; Wang, L; French, A J; Westra, J; Frebourg, T; Espín, E; Armengol, M; Hamelin, R; Yamamoto, H; Hofstra, R M W; Seruca, R; Lindblom, A; Peltomäki, P; Thibodeau, S N; Aaltonen, L A; Schwartz, S, Jr
JOURNAL OF MEDICAL GENETICS. Sep 01, 2004 41(9):664-668
Academic Journal
Raevaara, T E; Timoharju, T; Lönnqvist, K E; Kariola, R; Steinhoff, M; Hofstra, R M W; Mangold, E; Vos, Y J; Nyström-Lahti, M
Journal of Medical Genetics. Oct 01, 2002 39(10):747-750
Academic Journal
Hofstra, R M W; Elfferich, P; Osinga, J; Verlind, E; Fransen, E; López Pisón, J; de Die-Smulders, C E M; Stolte-Dijkstra, I; Buys, C H C M
Journal of Medical Genetics. Mar 01, 2002 39(3):e11-e11
Academic Journal
Gath, R; Goessling, A; Keller, K-M; Koletzko, S; Coerdt, W; Müntefering, H; Wirth, S; Hofstra, R M W; Mulligan, L; Eng, C; von Deimling, A
GUT. May 01, 2001 48(5):671-675
Academic Journal
Journal of Medical Genetics. Mar 01, 1999 36(3):221-224
Academic Journal
Sijmons, R H; Hofstra, R M W; Wijburg, F A; Links, T P; Zwierstra, R P; Vermey, A; Aronson, D C; Tan-Sindhunata, G; Brouwers-Smalbraak, G J; Maas, S M; Buys, C H C M
Gut. Oct 01, 1998 43(4):542-547
Academic Journal
Crijns, A P G; de Graeff, P; Geerts, D; Ten Hoor, K A; Hollema, H; van der Sluis, T; Hofstra, R M W; de Bock, G H; de Jong, S; van der Zee, A G J; de Vries, E G E
Crijns, A P G, de Graeff, P, Geerts, D, Ten Hoor, K A, Hollema, H, van der Sluis, T, Hofstra, R M W , de Bock, G H, de Jong, S, van der Zee, A G J & de Vries, E G E 2007, 'MEIS and PBX homeobox proteins in ovarian cancer', European Journal of Cancer, vol. 43, no. 17, pp. 2495-505. https://doi.org/10.1016/j.ejca.2007.08.025
Academic Journal
Goverde A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Spaander MCW; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Nieboer D; Department of Public Health, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; van den Ouweland AMW; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Dinjens WNM; Department of Pathology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Dubbink HJ; Department of Pathology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Tops CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bruno MJ; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Hofstra RMW; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Steyerberg EW; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.; Wagner A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. a.wagner@erasmusmc.nl.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Room Ee-2018, P. O. Box 2040, 3000 CA, Rotterdam, The Netherlands. a.wagner@erasmusmc.nl.
Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE
Academic Journal
Nederlands Tijdschrift voor Geneeskunde. 150(6):311-318
Academic Journal
Vaes N; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Lentjes MHFM; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Gijbels MJ; Departments of Pathology and Molecular Genetics, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands.; Rademakers G; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Daenen KL; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Boesmans W; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Laboratory for Enteric Neuroscience (LENS); Translational Research Center for Gastrointestinal Disorders (TARGID), Department of Clinical and Experimental Medicine, University of Leuven, Leuven, Belgium.; Wouters KAD; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Geuzens A; Laboratory for Enteric Neuroscience (LENS); Translational Research Center for Gastrointestinal Disorders (TARGID), Department of Clinical and Experimental Medicine, University of Leuven, Leuven, Belgium.; Qu X; Department of Pediatric Cardiology, Vanderbilt University Medical Center, Nashville, TN, USA.; Steinbusch HPJ; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNS), Maastricht University Medical Centre, Maastricht, The Netherlands.; Rutten BPF; Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNS), Maastricht University Medical Centre, Maastricht, The Netherlands.; Baldwin SH; Department of Pediatric Cardiology, Vanderbilt University Medical Center, Nashville, TN, USA.; Sharkey KA; Hotchkiss Brain Institute and Snyder Institute for Chronic Diseases, Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Hofstra RMW; Department of Clinical Genetics, University of Rotterdam, EMC, Rotterdam, The Netherlands.; van Engeland M; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Vanden Berghe P; Laboratory for Enteric Neuroscience (LENS); Translational Research Center for Gastrointestinal Disorders (TARGID), Department of Clinical and Experimental Medicine, University of Leuven, Leuven, Belgium.; Melotte V; Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics, University of Rotterdam, EMC, Rotterdam, The Netherlands.
Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9432572 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2982 (Electronic) Linking ISSN: 13501925 NLM ISO Abbreviation: Neurogastroenterol Motil Subsets: MEDLINE
Academic Journal
Pasini, B; Hofstra, R M W; Yin, L; Bocciardi, R; Santamaria, G; Grootscholten, P M; Ceccherini, I; Patrone, G; Priolo, M; Buys, C H C M; Romeo, G
Oncogene. 11(9):1737-1743
Academic Journal
Christaller WA; Department of Anesthesiology, University Medical Center, Johannes Gutenberg-University Mainz, Mainz, Germany.; Vos Y; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.; Gebre-Medhin S; Department of Clinical Genetics, University Hospital, Lund University, Lund, Sweden.; Hofstra RM; Department of Clinical Genetics, University of Rotterdam, Rotterdam, The Netherlands.; Schäfer MK; Department of Anesthesiology, University Medical Center, Johannes Gutenberg-University Mainz, Mainz, Germany.; Focus program Translational Neurosciences (FTN), Johannes Gutenberg-University Mainz, Mainz, Germany.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Le TL; Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France.; Sribudiani Y; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, the Netherlands; Department of Biomedical Sciences, Division of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung 40132, Indonesia.; Dong X; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, 3010 Victoria, Australia.; Huber C; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, 75015 Paris, France.; Kois C; Albany Medical Center, 43 New Scotland Ave, Albany, NY 12208, USA.; Baujat G; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, 75015 Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Gordon CT; Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France.; Mayne V; Department of Medical Imaging, Royal Children's Hospital, Melbourne, Australia 3052.; Galmiche L; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Serre V; Université de Paris, Institut Jacques Monod, UMR7592 CNRS, 15 Rue Hélène Brion, 75013 Paris, France.; Goudin N; Université de Paris, Imagine Institute, Cell Imaging, INSERM UMR 1163, 75015 Paris, France.; Zarhrate M; Université de Paris, Imagine Institute, Structure Fédérative de Recherche Necker, Genomic Platform, INSERM UMR 1163 and INSERM US24, Centre National de la Recherche Scientifique UMS3633, 75015 Paris, France.; Bole-Feysot C; Université de Paris, Imagine Institute, Structure Fédérative de Recherche Necker, Genomic Platform, INSERM UMR 1163 and INSERM US24, Centre National de la Recherche Scientifique UMS3633, 75015 Paris, France.; Masson C; Université de Paris, Imagine Institute, Bioinformatics Platform, INSERM UMR 1163, 75015 Paris, France.; Nitschké P; Université de Paris, Imagine Institute, Bioinformatics Platform, INSERM UMR 1163, 75015 Paris, France.; Verheijen FW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, the Netherlands.; Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, 415 Main St, Cambridge, MA 02142, USA.; Pelet A; Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France.; Sadedin S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, 3010 Victoria, Australia.; Pugh JA; Albany Medical Center, 43 New Scotland Ave, Albany, NY 12208, USA.; Shur N; Children's National, 111 Michigan Ave NW, Washington, D.C. 20010, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia 3052.; El Chehadeh S; Service de Génétique Médicale, Hôpital de Hautepierre, 67098 Strasbourg, France.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Rd, Parkville VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, 3010 Victoria, Australia.; Cormier-Daire V; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, 75015 Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Hofstra RMW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, the Netherlands.; Lyonnet S; Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia 3052.; Attié-Bitach T; Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France; Université de Paris, Imagine Institute, Laboratory of Genetics and Development of the Cerebral Cortex, INSERM UMR 1163, 75015 Paris, France.; Kerstjens-Frederikse WS; Department of Genetics, University Medical Centre Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands.; Amiel J; Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France; Fédération de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France.; Thomas S; Université de Paris, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, 75015 Paris, France. Electronic address: sophie.thomas@inserm.fr.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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