부산대학교 도서관

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

Fiskerstrand, T; Arshad, N; Haukanes, B I

The New England Journal of Medicine. Apr 26, 2012 366(17)

Szilvay, Anne Marie; Nornes, Svanhild; Kannapiran, Amirtheligam; Haukanes, B. I.; Endresen, C.; Helland, D. E.

Archives of Virology. September 1993 131(3-4):393-403

Totland, Cecilie; Aarskog, Nina K.; Eichler, Tilo W.; Haugen, Mette; Nøstbakken, Jane K.; Monstad, Sissel E.; Salvesen, Helga B.; Mørk, Sverre; Haukanes, Bjørn I.; Vedeler, Christian A.

Cancer Immunology, Immunotherapy. February 2011 60(2):283-289

Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.; Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain.; Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.; Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.; Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA.; Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.; Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.; Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France.; de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.; Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom.; Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy.; Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA.; Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.; Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.; Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy.; Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA.; Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom.; Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA.; Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA.; Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA.; Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique.; Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.; Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA.; Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel.; Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.; Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.; Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.; Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.

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

Sagen, J. V.; Bjorkhaug, L.; Haukanes, B. I.; Grevle, L.; Molnes, J.; Nedrebo, B. G.; Sovik, O.; Njolstad, P. R.; Johansson, S.; Molven, A.

DIABETES RESEARCH AND CLINICAL PRACTICE; NOV 2017, 133 p142-p149, 8p.

Haugarvoll, K.; Johansson, S.; Rodriguez, Carlos E., 1968; Boman, H.; Haukanes, B. I.; Bruland, O.; Roque, F.; Jonassen, I.; Blomqvist, Maria K., 1975; Telstad, W.; Månsson, Jan-Eric, 1946; Knappskog, P. M.; Bindoff, L. A.

PLoS ONE. 12(1)

Drage Berentsen, Ragnhild; Haukanes, Bjørn I.; Júlíusson, Pétur B.; Rosendahl, Karen; Houge, Gunnar

Molecular Syndromology; Sep2018, Vol. 9 Issue 5, p228-234, 7p

Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium. stephanie.moortgat@ipg.be.; Berland S; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Aukrust I; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.; Baker L; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Benoit V; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.; Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Cooper NS; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Debray FG; Department of Medical Genetics, CHU Sart-Tilman, Liège, Belgium.; Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Haukanes BI; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Kivuva E; Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK.; Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Mehta SG; East Anglian Medical Genetics Service, Cambridge, UK.; Nassogne MC; Département de Neuropédiatrie, Cliniques Universitaires Saint-Luc, Brussels, 1200, Belgium.; Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Prescott T; Department of Medical Genetics, Telemark Hospital, Skien, Norway.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK.; van Loon B; Department of Cancer Research and Molecular Medicine, Faculty of Medicine and Health Sciences, NTNU, Trondheim, Norway.; Verellen-Dumoulin C; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.; Verloes A; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.; Lippe CV; Departement of Medical Genetics, Trondheim University Hospital, Trondheim, Norway.; Wakeling E; North West Thames Regional Genetics Service, London North West Hospitals NHS Trust, Harrow, UK.; Wilkie AOM; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Wilson L; Clinical Genetics, Great Ormond Street Hospital for Children NHS foundation Trust, London, UK.; Yuen A; Genomics Institute, MultiCare Health System, Tacoma, WA, USA.; Study D; Wellcome Trust Sanger Institute, Cambridgeshire, UK.; Low KJ; University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.; Newbury-Ecob RA; University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.

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

Berland, S.; Moortgat, S.; Aukrust, I.; Maystadt, I.; Baker, L.; Benoit, V.; Cooper, N. S.; Francois-Guillaume, D.; Faivre, L.; Gardeitchik, T.; Haukanes, B. I.; Houge, G.; Kivuva, E.; Mehta, S.; Nassogne, M.; Powell-Hamilton, N.; Pfundt, R.; Rosello Piera, M.; Prescott, T.; Vasudevan, P.; van Loon, B.; Verellen-Dumoulin, C.; Verloes, A.; von der Lippe, C.; Wakeling, E.; Wilkie, A. O. M.; Wilson, L.; Yuen, A. L.; Newbury-Ecob, R. A.; Low, K. J.; DDD-Study

EUROPEAN JOURNAL OF HUMAN GENETICS; OCT 2018, 26 p336-p337, 2p. Supplement: S