부산대학교 도서관

Smits, R M; Xavier, M J; Oud, M S; Astuti, G D N; Meijerink, A M; Vries, P F de; Holt, G S; Alobaidi, B K S; Batty, L E; Khazeeva, G; Sablauskas, K; Vissers, L E L M; Gilissen, C; Fleischer, K; Braat, D D M; Ramos, L; Veltman, J A; de Vries, P F

Human Reproduction. Jun2022, Vol. 37 Issue 6, p1360-1369. 10p.

Oud, M S; Okutman, Ö; Hendricks, L A J; Vries, P F de; Houston, B J; Vissers, L E L M; O'Bryan, M K; Ramos, L; Chemes, H E; Viville, S; Veltman, J A; de Vries, P F

Human Reproduction. Jan2020, Vol. 35 Issue 1, p240-252. 13p. 1 Diagram, 3 Charts, 3 Graphs.

Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Smits RM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands.; Smith HE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Mastrorosa FK; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Holt GS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Houston BJ; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia.; de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Batty LE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Ismail H; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Greenwood J; Department of Genetic Medicine, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sheth H; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India.; Mikulasova A; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Astuti GDN; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.; Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.; McEleny K; Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Turner H; Department of Cellular Pathology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Coxhead J; Genomics Core Facility, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Cockell S; Bioinformatics Support Unit, Faculty of Medical Sciences New, castle University, Newcastle upon Tyne, UK.; Braat DDM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands.; Fleischer K; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands.; D'Hauwers KWM; Department of Urology, Radboudumc, Nijmegen, The Netherlands.; Schaafsma E; Department of Pathology, Radboudumc, Nijmegen, The Netherlands.; Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA.; Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA.; Friedrich C; Institute of Reproductive Genetics, University of Münster, Münster, Germany.; Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany.; Aston KI; Department of Surgery, Division of Urology, University of Utah School of Medicine, Salt Lake City, UT, USA.; Riera-Escamilla A; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Catalonia, Spain.; Krausz C; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY, USA.; Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Elliott DJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany.; O'Bryan MK; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia.; Ramos L; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands.; Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; van der Heijden GW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands.; Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. joris.veltman@newcastle.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Marouane A; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Health Sciences, Nijmegen, The Netherlands.; Olde Keizer RACM; Department of Health Sciences and Primary Care, University Medical Center, Utrecht, The Netherlands.; Frederix GWJ; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Health Sciences, Nijmegen, The Netherlands.; Department of Health Sciences and Primary Care, University Medical Center, Utrecht, The Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Boode WP; Department of Neonatology, Radboudumc Amalia Children's Hospital, Radboud Institute of Health Sciences, Nijmegen, the Netherlands.; van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Radboud Institute of Health Sciences, Nijmegen, The Netherlands. wendy.vanzelst-stams@radboudumc.nl.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Koolen, D A; Sharp, A J; Hurst, J A; Firth, H V; Knight, S J L; Goldenberg, A; Saugier-Veber, P; Pfundt, R; Vissers, L E L M; Destrée, A; Grisart, B; Rooms, L; Van der Aa, N; Field, M; Hackett, A; Bell, K; Nowaczyk, M J M; Mancini, G M S; Poddighe, P J; Schwartz, C E; Rossi, E; De Gregori, M; Antonacci-Fulton, L L; II, McLellan M D; Garrett, J M; Wiechert, M A; Miner, T L; Crosby, S; Ciccone, R; Willatt, L; Rauch, A; Zenker, M; Aradhya, S; Manning, M A; Strom, T M; Wagenstaller, J; Krepischi-Santos, A C; Vianna-Morgante, A M; Rosenberg, C; Price, S M; Stewart, H; Shaw-Smith, C; Brunner, H G; Wilkie, A O M; Veltman, J A; Zuffardi, O; Eichler, E E; de Vries, B B A

Journal of Medical Genetics. Nov 01, 2008 45(11):710-720

Jongmans, M C J; Admiraal, R J; van der Donk, K P; Vissers, L E L M; Baas, A F; Kapusta, L; van Hagen, J M; Donnai, D; de Ravel, T J; Veltman, J A; van Kessel, A Geurts; De Vries, B B A; Brunner, H G; Hoefsloot, L H; van Ravenswaaij, C M A

JOURNAL OF MEDICAL GENETICS. Apr 01, 2006 43(4):306-314

Wevers RA; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; Christensen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Engelke UFH; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; Geuer S; Department Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany.; Coene KLM; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; Kwast JT; Department Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; Lund AM; Department of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Vissers LELM; Department Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, Nijmegen, The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Jongmans, M C J; Admiraal, R J; van der Donk, K P; Vissers, L E L M; Baas, A F; Kapusta, L; van Hagen, J M; Donnai, D; de Ravel, T J; Veltman, J A; Geurts van Kessel, A; de Vries, B B A; Brunner, H G; Hoefsloot, L H; van Ravenswaaij, C M A

Journal of Medical Genetics, 43, 4, pp. 306-14
Jongmans, M C J, Admiraal, R J, Van Der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, Van Hagen, J M, Donnai, D, De Ravel, T J, Veltman, J A, Geurts Van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H & Van Ravenswaaij, C M A 2006, ' CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene ', Journal of Medical Genetics, vol. 43, no. 4, pp. 306-314 . https://doi.org/10.1136/jmg.2005.036061

Jansen S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Willemsen MH; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries P; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Hehir-Kwa JY; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.; de Vries BB; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands. bert.devries@radboudumc.nl.; Vissers LE; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.

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

Krabbenborg L; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Schieving J; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Vissers LE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MA; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.; Veltman JA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van der Burg S; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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

Rao PN; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, Calif 90095, USA.; Li W; Vissers LE; Veltman JA; Ophoff RA

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Vissers LE; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.; Stankiewicz P; Yatsenko SA; Crawford E; Creswick H; Proud VK; de Vries BB; Pfundt R; Marcelis CL; Zackowski J; Bi W; van Kessel AG; Lupski JR; Veltman JA

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

White SJ; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Vissers LE; Geurts van Kessel A; de Menezes RX; Kalay E; Lehesjoki AE; Giordano PC; van de Vosse E; Breuning MH; Brunner HG; den Dunnen JT; Veltman JA

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Koolen DA; Vissers LE; Nillesen W; Smeets D; van Ravenswaaij CM; Sistermans EA; Veltman JA; de Vries BB

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Krabbenborg L; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. L.Krabbenborg@science.ru.nl.; Institute for Science, Innovation and Society (ISIS), Radboud University, P.O. Box 9010, 6500, Nijmegen, the Netherlands. L.Krabbenborg@science.ru.nl.; Vissers LE; Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.; Schieving J; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.; Kamsteeg EJ; Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.; Veltman JA; Department of Human Genetics, Donders Centre for Neuroscience, Radboudumc, Geert Grooteplein 10, 6525, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 6229, Maastricht, the Netherlands.; Willemsen MA; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; Van der Burg S; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE