부산대학교 도서관

Sangermano, R; Garanto, A; Khan, M; Runhart, EH; Bauwens, M; Bax, NM; van den Born, LI; Khan, MI; Cornelis, SS; Verheij, JBGM; Pott, JWR; Thiadens, AAHJ; Klaver, CCW; Puech, B; Meunier, I; Naessens, S; Arno, G; Fakin, A; Carss, KJ; Raymond, FL; Webster, AR; Dhaenens, CM; Stohr, H; Grassmann, F; Weber, BHF; Hoyng, CB; De Baere, E; Albert, S; Collin, RWJ; Cremers, FPM

Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1751-1760

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

Dijkhuizen, Trijnie; van Essen, Ton; van der Vlies, Pieter; Verheij, Joke B.G.M.; Sikkema‐Raddatz, Birgit; van der Veen, Anneke Y.; Gerssen‐Schoorl, Klasien B.J.; Buys, Charles H.C.M.; Kok, Klaas

American Journal of Medical Genetics. Part A; November 2006, Vol. 140 Issue: 22 p2482-2487, 6p

Buena-Atienza, E; Ruther, K; Baumann, B; Bergholz, R; Birch, D; De Baere, E; Dollfus, H; Greally, MT; Gustavsson, P; Hamel, CP; Heckenlively, JR; Leroy, BP; Plomp, AS; Pott, JWR; Rose, K; Rosenberg, T; Stark, Z; Verheij, JBGM; Weleber, R; Zobor, D; Weisschuh, N; Kohl, S; Wissinger, B

Scientific reports. 6:28253

Polla, DL; Bhoj, EJ; Verheij, JBGM; Klein Wassink-Ruiter, JS; Reis, A; Deshpande, C; Gregor, A; Hill-Karfe, K; Vulto-van Silfhout, AT; Pfundt, R; Bongers, EMHF; Hakonarson, H; Berland, S; Gradek, G; Banka, S; Chandler, K; Gompertz, L; Huffels, SC; Stumpel, CTRM; Wennekes, R; Stegmann, APA; Reardon, W; Leenders, EKSM; de Vries, BBA; Li D; Zackai, E; Ragge, Nicole; Lynch, SA; Cuddapah, S; van Bokhoven, H; Zweier, C; de Brouwer, APM

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Rump, P.; Dijkhuizen, T.; Sikkema-Raddatz, B.; Lemmink, HH; Vos, YJ; Verheij, Jbgm; Van Ravenswaaij, Cma

Clinical Genetics. Nov, 2008, Vol. 74 Issue 5, p455, 8 p.

Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia's Children Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Dockery A; The School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland.; van den Born LI; The Rotterdam Eye Hospital, Rotterdam, the Netherlands.; Fajardy I; Centre de Biologie Pathologie Génétique, CHU de Lille, Lille, France.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Wissinger B; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Farrar GJ; The School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland.; Ben-Yosef T; The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Pfiffner FK; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.; Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Weener ME; CRO Oftalmic, Moscow, Russia.; Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Sharon D; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.; Salameh M; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.; Offenheim A; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.; Heon E; Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada.; Girotto G; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.; Gasparini P; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.; Morgan A; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Bergen AA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.; Ten Brink JB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.; Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.; Tranebjærg L; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Rendtorff ND; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark.; Vermeer S; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Smits JJ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands.; Pennings RJE; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Aben M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Oostrik J; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.; Corominas Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands.; Phan M; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Rijnstate Hospital, Arnhem, the Netherlands.; van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Thiadens AAHJ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Verheij JBGM; Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; van Schooneveld MJ; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.; de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Li CHZ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hoyng CB; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Wijk E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv

Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.; Bhoj EJ; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Verheij JBGM; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Wassink-Ruiter JSK; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Deshpande C; Department of Clinical Genetics, SE Thames Regional Genetics Service, Guy's Hospital, London, UK.; Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Hill-Karfe K; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Silfhout ATV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Hakonarson H; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Berland S; Department of Medical Genetics, Haukeland University Hospital, Helse Bergen, Norway.; Gradek G; Department of Medical Genetics, Haukeland University Hospital, Helse Bergen, Norway.; Banka S; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Chandler K; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Gompertz L; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Huffels SC; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Wennekes R; Department of Radiology, Maastricht University Hospital, Maastricht University, Maastricht, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Reardon W; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Leenders EKSM; 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.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zackai E; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ragge N; International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, UK.; Lynch SA; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.; Cuddapah S; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Arjan.deBrouwer@radboudumc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Corsten-Janssen N; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Bouman K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Diphoorn JCD; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Scheper AJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Kinds R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; El Mecky J; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Clinical Ethics and Law, University of Southampton, Southampton, UK.; Breet H; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Verheij JBGM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Suijkerbuijk R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Duin LK; Department of Obstetrics, Gynecology and Prenatal Diagnosis, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Manten GTR; Department of Obstetrics and Gynecology, Isala, Zwolle, The Netherlands.; van Langen IM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Westers H; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; van Diemen CC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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

Sanchez E; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Laplace-Builhé B; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Mau-Them FT; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, Pôle de Biologie, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm-Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; Richard E; IRCM, INSERM, U1194 Univ Montpellier, Montpellier, France.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, F 76000, Normandy Center for Genomic and Personalized Medicine, Reference Center for Developmental Disorders, Rouen, France.; Toler TL; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Guignard T; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.; Gatinois V; Unité de Génétique Chromosomique, Plateforme ChromoStem, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.; Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France.; Blanchet C; Service ORL, Montpellier, France.; Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; Bihoreau MT; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; Nephi W; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Lüdecke HJ; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Verheij JBGM; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.; Moreau-Lenoir F; ORL CH d'Evreux, Évreux, France.; Denoyelle F; Service d'ORL pédiatrique, Hôpital Universitaire Necker-Enfants Malades, APHP et François Jacob, CEA, Université Paris-Saclay, Evry, France.; Rivière JB; Laboratoire de Génétique Moléculaire, Plateau technique de Biologie - CHU Dijon, Dijon, France.; Laplanche JL; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.; Willing M; Department of Pediatrics, Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Captier G; Chirurgie plastique infantile Montpellier, Montpellier, France.; Apparailly F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France. florence.apparailly@inserm.fr.; Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Collet C; UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.; Djouad F; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.; Geneviève D; Service de Génétique Clinique, centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, Faculté de Médecine, Montpellier, France.; IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier, France.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE