부산대학교 도서관

Labrijn-Marks, I; Somers-Bolman, GM; Groen, SLMI; Hoogeveen-Westerveld, M; Kroos, MA; Ala-Mello, S; Amaral, O; Miranda, CS; Mavridou, I; Michelakakis, H; Naess, K; Verheijen, FW; Hoefsloot, LH; Dijkhuizen, T; Benjamins, M; van den Hout, HJM; van der Ploeg, AT; Pijnappel, WWMP; Saris, JJ; Halley, DJ

European journal of human genetics : EJHG. 27(6):919-927

Heutinck PAT; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; van den Born LI; The Rotterdam Eye Hospital and Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands.; Vermeer M; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Iglesias Gonzales AI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Pott JWR; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Kroes HY; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Schooneveld MJ; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, the Netherlands.; Boon CJF; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, the Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam Reproduction & Development, Amsterdam UMC, University of Amsterdam, the Netherlands.; de Jong-Hesse Y; Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; van Egmond-Ebbeling MB; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; A Bergen A; Department of Human Genetics, Amsterdam Reproduction & Development, Amsterdam UMC, University of Amsterdam, the Netherlands.; Klaver CCW; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland.; Meester-Smoor MA; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Thiadens AAHJ; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Verhoeven VJM; Department of Ophthalmology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Glueckert, Rudolf; RaskAndersen, Helge; Sergi, Consolato; Schmutzhard, Joachim; Mueller, Bert; Beckmann, Felix; Rittinger, Olaf; Hoefsloot, Lies H.; SchrottFischer, Anneliese; Janecke, Andreas R.

American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p665-673, 9p

Jongmans, Marjolijn C.J.; Hoefsloot, Lies H.; van der Donk, Kim P.; Admiraal, Ronald J.; Magee, Alex; van de Laar, Ingrid; Hendriks, Yvonne; Verheij, Joke B.G.M.; Walpole, Ian; Brunner, Han G.; van Ravenswaaij, Conny M.A.

American Journal of Medical Genetics. Part A; January 2008, Vol. 146 Issue: 1 p43-50, 8p

Collin, Rob W.J.; Pauw, Robert J.; Schoots, Jeroen; Huygen, Patrick L.M.; Hoefsloot, Lies H.; Cremers, Cor W.R.J.; Kremer, Hannie

American Journal of Medical Genetics. Part A; August 2006, Vol. 140 Issue: 16 p1791-1794, 4p

Spruijt, L.; Hoefsloot, L.H.; van Schaijk, G.H.W.H.; van Waardenburg, D.; Kremer, B.; Brackel, H.J.L.; de Die‐Smulders, C.E.M.

American Journal of Medical Genetics. Part A; June 2006, Vol. 140 Issue: 12 p1343-1345, 3p

Diderich KEM; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands. Electronic address: k.diderich@erasmusmc.nl.; Klapwijk JE; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Diderich KEM; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands. Electronic address: k.diderich@erasmusmc.nl.; Klapwijk JE; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC, Dr Molewaterplein 40, 3015 GD, Rotterdam, the Netherlands.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

van Zutven LJCM; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Mijalkovic J; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; van Veghel-Plandsoen M; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Goense M; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Polak M; Department of Psychology, Education & Child Studies (DPECS), Erasmus University, Rotterdam, The Netherlands.; Knapen MFCM; Department of Obstetrics and Prenatal Medicine, Erasmus Medical Centre, Wytemaweg 80, Na-1517, 3015 GE, Rotterdam, The Netherlands.; de Weerd S; Department of Obstetrics and Gynaecology, Albert Schweitzer Hospital, Albert Schweitzerplaats 25, 3318 AT, Dordrecht, The Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands. m.srebniak@erasmusmc.nl.

Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Medico-Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ramakrishnan R; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Kühn NA; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van der Linde HC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lor-Zade S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Albuainain F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Shi Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Capo I; Department for Histology and Embryology, Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.; van den Herik EM; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Geeven G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mulder MT; Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ruijter GJG; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany.; Jacobs EH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PL, UK.; De Simone L; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Schwaede A; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Kuntz N; Division of Neurology, Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA.; Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, USA.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.; AlMuhaizea M; Neuroscience Centre, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 76, Riyadh, 11211, Saudi Arabia.; Colak D; Molecular Oncology Department, King Faisal Specialist Hospital and Research Centre (KFSHRC), MBC: 03, Riyadh, 11211, Saudi Arabia.; AlQudairy H; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Alsagob M; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Applied Genomics Technologies Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia.; Pereira C; CENTOGENE, GmbH, 18055, Rostock, Germany.; Trunzo R; CENTOGENE, GmbH, 18055, Rostock, Germany.; Karageorgou V; CENTOGENE, GmbH, 18055, Rostock, Germany.; Bertoli-Avella AM; CENTOGENE, GmbH, 18055, Rostock, Germany.; Bauer P; CENTOGENE, GmbH, 18055, Rostock, Germany.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Issa M; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Gleeson JG; Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, Rady Children's Institute for Genomic Medicine, San Diego, USA.; Willemsen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Kaya N; Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, MBC: 26, PO Box: 3354, Riyadh, 11211, Saudi Arabia.; Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Whole Genome Sequencing Implementation and Research Task Force, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE