부산대학교 도서관

Spitali, Pietro ; Heemskerk, Hans ; Vossen, Rolf HAM ; Ferlini, Alessandra ; den Dunnen, Johan T ; 't Hoen, Peter AC ; Aartsma-Rus, Annemieke

In Laboratory Investigation September 2010 90(9):1396-1402

Aartsma-Rus, Annemieke; Bremmer-Bout, Mattie; Janson, Anneke A.M; den Dunnen, Johan T; van Ommen, Gert-Jan B; van Deutekom, Judith C.T

In Neuromuscular Disorders 2002 12 Supplement:S71-S77

de Koning Gans, Pia A.M ; Ginjaar, Ieke ; Bakker, Egbert ; Yates, John R.W ; den Dunnen, Johan T

In Neuromuscular Disorders 1999 9(4):247-250

Mastrokolias, Anastasios; Ariyurek, Yavuz; Goeman, Jelle J; van Duijn, Erik; Roos, Raymund AC; van der Mast, Roos C; van Ommen, GertJan B; den Dunnen, Johan T; 't Hoen, Peter AC; van Roon-Mom, Willeke MC

European Journal of Human Genetics. Oct2015, Vol. 23 Issue 10, p1349-1356. 8p.

Romanelli Tavares, Vanessa L; Gordon, Christopher T; Zechi-Ceide, Roseli M; Kokitsu-Nakata, Nancy Mizue; Voisin, Norine; Tan, Tiong Y; Heggie, Andrew A; Vendramini-Pittoli, Siulan; Propst, Evan J; Papsin, Blake C; Torres, Tatiana T; Buermans, Henk; Capelo, Luciane Portas; den Dunnen, Johan T; Guion-Almeida, Maria L; Lyonnet, Stanislas; Amiel, Jeanne; Passos-Bueno, Maria Rita

European Journal of Human Genetics. Apr2015, Vol. 23 Issue 4, p481-485. 5p.

de Brouwer, Arjan PM; Nabuurs, Sander B; Verhaart, Ingrid EC; Oudakker, Astrid R; Hordijk, Roel; Yntema, Helger G; Hordijk-Hos, Jannet M; Voesenek, Krysta; de Vries, Bert BA; van Essen, Ton; Chen, Wei; Hu, Hao; Chelly, Jamel; den Dunnen, Johan T; Kalscheuer, Vera M; Aartsma-Rus, Annemieke M; Hamel, Ben CJ; van Bokhoven, Hans; Kleefstra, Tjitske

European Journal of Human Genetics. Apr2014, Vol. 22 Issue 4, p480-485. 6p.

Oliveira, Jorge; Oliveira, Márcia E; Kress, Wolfram; Taipa, Ricardo; Pires, Manuel Melo; Hilbert, Pascale; Baxter, Peter; Santos, Manuela; Buermans, Henk; den Dunnen, Johan T; Santos, Rosário

European Journal of Human Genetics. May2013, Vol. 21 Issue 5, p540-549. 10p. 1 Color Photograph, 4 Charts, 2 Graphs.

Lemmers, Richard J L F; Tawil, Rabi; Petek, Lisa M; Balog, Judit; Block, Gregory J; Santen, Gijs W E; Amell, Amanda M; van der Vliet, Patrick J; Almomani, Rowida; Straasheijm, Kirsten R; Krom, Yvonne D; Klooster, Rinse; Sun, Yu; den Dunnen, Johan T; Helmer, Quinta; Donlin-Smith, Colleen M; Padberg, George W; van Engelen, Baziel G M; de Greef, Jessica C; Aartsma-Rus, Annemieke M

Nature Genetics. Dec2012, Vol. 44 Issue 12, p1370-1374. 5p. 1 Diagram, 1 Chart, 2 Graphs.

de Boer, Muriel E; Berg, Sandra; Timmermans, Martijn JTN; den Dunnen, Johan T; van Straalen, Nico M; Ellers, Jacintha; Roelofs, Dick

BMC Molecular Biology. 3/1/2011, Vol. 12 Issue 1, p1-16. 16p. 4 Diagrams, 2 Charts, 2 Graphs.

Ginjaar, Ieke B; Kneppers, Alexander LJ; v d Meulen, Jan-Douwe M; Anderson, Louise VB; Bremmer-Bout, Mattie; van Deutekom, Judith CT; Weegenaar, Jitske; den Dunnen, Johan T; Bakker, Egbert

European Journal of Human Genetics. Oct2000, Vol. 8 Issue 10, p793. 4p.

Romanelli Tavares, Vanessa Luiza; Guimarães-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle De Paula; Buermans, Henk; Freitas, Renato S; Den Dunnen, Johan T; Twigg, Stephen RF; Passos-Bueno, Maria Rita

J Med Genet

Roest, Pauline AM ; Bakker, Egbert ; Fallaux, Frits J ; Verellen-Dumoulin, Christine ; Murry, Charles E ; den Dunnen, Johan T

In The Lancet 1999 353(9154):727-728

Mons, Barend; van Haagen, Herman; Chichester, Christine; Hoen, Peter-Bram 't; den Dunnen, Johan T; van Ommen, Gertjan; van Mulligen, Erik; Singh, Bharat; Hooft, Rob; Roos, Marco; Hammond, Joel; Kiesel, Bruce; Giardine, Belinda; Velterop, Jan; Groth, Paul; Schultes, Erik

Nature Genetics. Apr2011, Vol. 43 Issue 4, p281-283. 3p. 2 Diagrams.

Hart RK; MyOme, Inc., San Francisco, USA. reecehart@gmail.com.; Fokkema IFAC; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; DiStefano M; Medical and Population Genetics Group, The Broad Institute of MIT and Harvard, Cambridge, USA.; Hastings R; GenQA, Oxford University Hospitals NHS Trust, Oxford, UK.; GenQA, NHS Lothian, Edinburgh, UK.; Laros JFJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Bioinformatics and Computational Services, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.; Taylor R; EMQN CIC, Manchester, UK.; Manchester University NHS Foundation Trust, Manchester, UK.; Wagner AH; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, USA.; Department of Pediatrics, the Ohio State University College of Medicine, Columbus, USA.; den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Freeman PJ; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. peter.j.freeman@manchester.ac.uk.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK. peter.j.freeman@manchester.ac.uk.; Wagstaff JF; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.; Fokkema IFAC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Cutting GR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Cambridge Street, Boston, MA, USA.; Davies AC; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Gretton LJ; Digital Services, University of Leicester, Leicester, UK.; Dalgleish R; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

Freeman PJ; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. peter.j.freeman@manchester.ac.uk.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK. peter.j.freeman@manchester.ac.uk.; Wagstaff JF; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.; Fokkema IFAC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Cutting GR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Cambridge Street, Boston, MA, USA.; Davies AC; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Gretton LJ; Digital Services, University of Leicester, Leicester, UK.; Dalgleish R; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

Laner A; MGZ - Medizinisch Genetisches Zentrum, Bayerstrasse 3-5, 80335, Munich, Germany.; Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.; den Dunnen JT; Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. gunnar.houge@helse-bergen.no.; Bratland E; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Žukauskaitė G; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Sansovic I; Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Childrens' Hospital Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.; Brea-Fernández AJ; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, CIBERER), Santiago de Compostela, Spain.; Mayer K; Center for Human Genetics and Laboratory Diagnostics, MVZ Martinsried GmbH, Martinsried, Germany.; Paakkola T; Nordlab Wellbeing Service Group, Genetics Laboratory, Oulu, Finland.; McKenna C; Northern Ireland Regional Molecular Diagnostic Service, Belfast, Northern Ireland.; Wright W; Northern Ireland Regional Molecular Diagnostic Service, Belfast, Northern Ireland.; Markovic MK; Center for Applied and Forensic Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.; Lildballe DL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Konecny M; Laboratory of Genomic Medicine, GHC GENETICS SK, Bratislava, Slovakia.; Department of Biology, Institute of Biology and Biotechnology, Faculty of Natural Sciences, University of ss. Cyril and Methodius in Trnava, Trnava, Slovakia.; Smol T; Institut de Genetique Medicale-CHU Lille, Lille, France.; Alhopuro P; HUS Diagnostic Center, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Gouttenoire EA; MEDISYN Genetics, Chemin d'Entre-Bois 21, Lausanne, Switzerland.; Obeid K; Molecular Diagnostics, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica' and Genome Center Bulgaria, Sofia, Bulgaria.; Jankovic M; Neurology Clinic UCCS, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Lubieniecka JM; Humangenetik, Ruhr-Universität Bochum, Bochum, Germany.; Stojiljkovic M; Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.; Buisine MP; Molecular Oncogenetics, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France.; Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277, CANTHER, Lille, France.; Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Lorans M; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Roomere H; Department of laboratory genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Petit FM; Department of Oncopharmacology, Centre Antoine Lacassagne, Nice, France.; Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland.; Beneteau C; CHU Bordeaux, Service de Génétique Médicale, F-33000, Bordeaux, France.; Pérez B; Genetics Department of CEDEM, Universidad Autónoma de Madrid, Madrid, Spain.; Plaseska-Karanfilska D; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, North Macedonia.; Rath M; Institute for Molecular Medicine, MSH Medical School Hamburg, Hamburg, Germany.; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.; Fuhrmann N; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Ferreira BI; GENELAB by ABC, Faro, Portugal.; Faculty of Medicine and Biomedical Sciences, University of Algarve, Campus de Gambelas, Faro, Portugal.; Stephanou C; Molecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Sjursen W; Department of Medical Genetics, St Olavs Hospital, Trondheim, Norway.; Maver A; Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.; Rouzier C; Department of Medical Genetics, National Centre for Mitocondrial Diseases, CHU de NICE, Université Côte d'Azur, Nice, France.; CNRS, INSERM, IRCAN, Université Côte d'Azur, Nice, France.; Chirita-Emandi A; Department of Microscopic Morphology Genetics Discipline, Center of Genomic Medicine, 'Victor Babes' University of Medicine and Pharmacy Timisoara, Timisoara, Romania.; Gonçalves J; Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Lisbon, Portugal.; Kuek WCD; Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital, Kent Ridge, Singapore.; Broly M; Laboratory of Rare and Autoinflammatory Genetic Diseases, Department of Genetics-LBM, Montpellier University Hospital, Montpellier, France.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Thong MK; Genetics and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Tae SK; Genetics and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Hyblova M; Department of Genetics, Medirex, Bratislava, Slovakia.; den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Laner A; Medizinisch Genetisches Zentrum (MGZ) München, Munich, Germany.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Savige, Judy; Dalgleish, Raymond; Cotton, Richard GH; den Dunnen, Johan T; Macrae, Finlay; Povey, Sue

Pediatric Nephrology. November, 2015, Vol. 30 Issue 11, p1893, 9 p.

Deans, Zandra C.; Fairley, Jennifer A.; den Dunnen, Johan T; Clark, Caroline

Human Mutation. Jun 01, 2016 37(6):576-578