부산대학교 도서관

Coe, Bradley P; Witherspoon, Kali; Baker, Carl; Krumm, Nik; Shendure, Jay; Lockhart, Paul J; Scheffer, Ingrid E; Tervo, Raymond; Peeters, Hilde; Thompson, Elizabeth; Haan, Eric; O'Roak, Brian J; Fichera, Marco; Gécz, Jozef; Eichler, Evan E; Rosenfeld, Jill A; Torchia, Beth S; van Bon, Bregje W M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M

Nature Genetics. Oct2014, Vol. 46 Issue 10, p1063-1071. 9p.

Mullegama, Sureni V; Rosenfeld, Jill A; Orellana, Carmen; van Bon, Bregje W M; Halbach, Sara; Repnikova, Elena A; Brick, Lauren; Li, Chumei; Dupuis, Lucie; Rosello, Monica; Aradhya, Swaroop; Stavropoulos, D James; Manickam, Kandamurugu; Mitchell, Elyse; Hodge, Jennelle C; Talkowski, Michael E; Gusella, James F; Keller, Kory; Zonana, Jonathan; Schwartz, Stuart

European Journal of Human Genetics. Jan2014, Vol. 22 Issue 1, p57-63. 7p.

Rivière, Jean-Baptiste; van Bon, Bregje W M; Hoischen, Alexander; Kholmanskikh, Stanislav S; O'Roak, Brian J; Gilissen, Christian; Gijsen, Sabine; Sullivan, Christopher T; Christian, Susan L; Abdul-Rahman, Omar A; Atkin, Joan F; Chassaing, Nicolas; Drouin-Garraud, Valerie; Fry, Andrew E; Fryns, Jean-Pierre; Gripp, Karen W; Kempers, Marlies; Kleefstra, Tjitske; Mancini, Grazia M S; Nowaczyk, Ma?gorzata J M

Nature Genetics. Apr2012, Vol. 44 Issue 4, p440-444. 5p. 1 Color Photograph, 1 Diagram, 3 Charts, 1 Graph.

Schuurs-Hoeijmakers, Janneke H M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M; van de Vondervoort, Ilse I G M; van Bon, Bregje W M; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla, Pinella; Greco, Donatella; Fichera, Marco; Galesi, Ornella; Kleefstra, Tjitske; Greally, Marie T; Ockeloen, Charlotte W; Willemsen, Marjolein H; Bongers, Ernie M H F; Janssen, Irene M; Pfundt, Rolph; Veltman, Joris A; Romano, Corrado; Willemsen, Michèl A; van Bokhoven, Hans; Brunner, Han G; de Vries, Bert B A; de Brouwer, Arjan P M

Journal of Medical Genetics. Dec 01, 2013 50(12):802-811

Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; Isidor, Bertrand; Le Caignec, Cédric; Lorino, Elsa; Asztalos, Zoltan; Koolen, David A; Vissers, Lisenka E L M; Schenck, Annette; Kleefstra, Tjitske

Journal of Medical Genetics. Aug 01, 2013 50(8):507-514

Willemsen, Marjolein H; Vissers, Lisenka E L; Willemsen, Michèl A A P; van Bon, Bregje W M; Kroes, Thessa; de Ligt, Joep; de Vries, Bert B; Schoots, Jeroen; Lugtenberg, Dorien; Hamel, Ben C J; van Bokhoven, Hans; Brunner, Han G; Veltman, Joris A; Kleefstra, Tjitske

Journal of Medical Genetics. Mar 01, 2012 49(3):179-183

White, Janson; Mazzeu, Juliana F; Hoischen, Alexander; Jhangiani, Shalini N; Gambin, Tomasz; Alcino, Michele Calijorne; Penney, Samantha; Saraiva, Jorge M; Hove, Hanne; Skovby, Flemming; Kayserili, Hülya; Estrella, Elicia; Vulto-van Silfhout, Anneke T; Steehouwer, Marloes; Muzny, Donna M; Sutton, V Reid; Gibbs, Richard A; Lupski, James R; Brunner, Han G; van Bon, Bregje W M; Carvalho, Claudia M B

American Journal of Human Genetics, 96, 4, pp. 612-22

Vissers, L.E.L.M.; Ligt, J. de; Gilissen, C.F.H.A.; Janssen, I.M.; Steehouwer, M.; Vries, P.F. de; Lier, B. van; Arts, P.J.W.; Wieskamp, N.A.W.; Rosario, M. del; Bon, B.W.M. van; Hoischen, A.; Vries, L.B.A. de; Brunner, H.G.; Veltman, J.A.

Nature Genetics, 42, 12, pp. 1109-12

Morison LD; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Braden RO; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; The University of Melbourne, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Brignell A; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Monash University, Melbourne, VIC, Australia.; Australian Catholic University, Melbourne, VIC, Australia.; van Bon BWM; Radboud University Medical Centre, Nijmegen, Netherlands.; Morgan AT; Murdoch Children's Research Institute, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.; The University of Melbourne, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.

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

van Bon, Bregje W M; Koolen, David A; Brueton, Louise; McMullan, Dominic; Lichtenbelt, Klaske D; Adès, Lesley C; Peters, Gregory; Gibson, Kate; Moloney, Susan; Novara, Francesca; Pramparo, Tiziano; Bernardina, Bernardo Dalla; Zoccante, Leonardo; Balottin, Umberto; Piazza, Fausta; Pecile, Vanna; Gasparini, Paolo; Guerci, Veronica; Kets, Marleen; Pfundt, Rolph

European Journal of Human Genetics. Oct2010, Vol. 18 Issue 10, p1171-1171. 1p.

Vulto-van Silfhout AT; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Goeman JJ; Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.; Jansen S; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; van Amen-Hellebrekers CJM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; van Bon BWM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Sistermans EA; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; de Brouwer APM; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

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

Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E L M; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F; Newbury-Ecob, Ruth; Kjærgaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A; Brunner, Han G; de Vries, Bert B B A

Nature Genetics, 43, 8, pp. 729-31

Kumar R; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Corbett MA; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Van Bon BW; Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.; Gardner A; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Woenig JA; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Jolly LA; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Douglas E; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.; Friend K; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.; Tan C; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Holvoet M; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Raynaud M; Centre Hospitalier Régional Universitaire, Service de Génétique, 37000 Tours, France.; Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.; Leffler M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.; Budny B; Department of Endocrinology, Metabolism and Internal Diseases and.; Wisniewska M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.; Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.; Latos-Bieleńska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.; Batanian J; Department of Pediatrics, Saint Louis University, St Louis, MO 63104, USA.; Rosenfeld JA; Signature Genomic Laboratories, Spokane, WA 99207, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Basel-Vanagaite L; Raphael Recanati Genetic Institute and Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.; Jensen C; Department of Human Molecular Genetics and.; Bienek M; Department of Human Molecular Genetics and.; Froyen G; Human Genome Laboratory, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium and.; Ullmann R; Department of Human Molecular Genetics and, Bundeswehr Institute of Radiobiology, 80937 Munich, Germany.; Hu H; Department of Human Molecular Genetics and.; Love MI; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.; Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baxendale A; South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.; Nicholl J; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.; Thompson EM; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.; Haan E; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.; Kalscheuer VM; Department of Human Molecular Genetics and.; Gecz J; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, jozef.gecz@adelaide.edu.au.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Ockeloen CW; Willemsen MH; de Munnik S; van Bon BW; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RL; Smeets EE; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJ; van Heumen CC; Yntema HG; Carels CE; Kleefstra T

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE

Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; de Munnik S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Bon BW; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Verrips A; Department of Paediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.; Kant SG; Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Jones EA; 1] Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK [2] Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Loon RL; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Smeets EE; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Nordgren A; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Malmgren H; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Grigelioniene G; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Vermeer S; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Louro P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Ramos L; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Maal TJ; Department of Oral and Maxillofacial Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.; van Heumen CC; Centre for Special Dental Care, Radboud University Medical Center, Nijmegen, The Netherlands.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Carels CE; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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

Gilissen C; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].; Hehir-Kwa JY; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].; Thung DT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; van de Vorst M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; van Bon BW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Willemsen MH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Kwint M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Janssen IM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Schenck A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Leach R; Complete Genomics Inc. 2071 Stierlin Court, Mountain View, California 94043, USA.; Klein R; Complete Genomics Inc. 2071 Stierlin Court, Mountain View, California 94043, USA.; Tearle R; Complete Genomics Inc. 2071 Stierlin Court, Mountain View, California 94043, USA.; Bo T; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] State Key Laboratory of Medical Genetics, Central South University. 110 Xiangya Road, Changsha, Hunan 410078, China.; Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Yntema HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; de Vries BB; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.; Brunner HG; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].; Vissers LE; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].; Veltman JA; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Buysse K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Ligt J; Janssen IM; van Bon BW; Gomes I; Hehir-Kwa J; Eggink AJ; van Vugt JM; Vissers LE; Geurts van Kessel A; Faas BH

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Vulto-van Silfhout AT; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.; Hehir-Kwa JY; van Bon BW; Schuurs-Hoeijmakers JH; Meader S; Hellebrekers CJ; Thoonen IJ; de Brouwer AP; Brunner HG; Webber C; Pfundt R; de Leeuw N; de Vries BB

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

Santen GW; Center for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Aten E; Vulto-van Silfhout AT; Pottinger C; van Bon BW; van Minderhout IJ; Snowdowne R; van der Lans CA; Boogaard M; Linssen MM; Vijfhuizen L; van der Wielen MJ; Vollebregt MJ; Breuning MH; Kriek M; van Haeringen A; den Dunnen JT; Hoischen A; Clayton-Smith J; de Vries BB; Hennekam RC; van Belzen MJ

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

van Bon BW; Department of Human Genetics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands.; Oortveld MA; Nijtmans LG; Fenckova M; Nijhof B; Besseling J; Vos M; Kramer JM; de Leeuw N; Castells-Nobau A; Asztalos L; Viragh E; Ruiter M; Hofmann F; Eshuis L; Collavin L; Huynen MA; Asztalos Z; Verstreken P; Rodenburg RJ; Smeitink JA; de Vries BB; Schenck A

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE