부산대학교 도서관

Rendtorff, ND; Lodahl, M; Boulahbel, H; Johansen, IR; Pandya, A; Welch, KO; Norris, VW; Arnos, KS; Bitner-Glindzicz, M; Emery, SB; Mets, MB; Fagerheim, T; Eriksson, K; Hansen, L; Bruhn, H; Moller, C; Lindholm, S; Ensgaard, S; Lesperance, MM; Tranebjaerg, L

American journal of medical genetics. Part A. 155A(6):1298-1313

Lildballe DL; Department Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Frederiksen AL; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.; Schönewolf-Greulich B; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Lautrup CK; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Karstensen HG; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark.; Pedersen IS; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Sunde L; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.; Risom L; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Rasmussen M; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark.; Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Rendtorff ND; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Gregersen PA; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Boonen SE; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Lindquist SG; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark; Neurogenetics Clinic and Research Lab, Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Denmark.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Epilepsy Genetics and Personalized Medicine. Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark. Electronic address: Birgitte.rode.diness@regionh.dk.

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

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

Langouët M; Cellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Jolicoeur C; Cellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Javed A; Cellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Mattar P; Cellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Gearhart MD; Department of Genetics, Cell Biology and Development, Development Biology Center, Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA.; Daiger SP; EHGED Department, Human Genetics Center, School of Public Health, University of Texas HSC, Houston, TX 77030, USA.; Bertelsen M; Department of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.; Department of Ophthalmology, Rigshospitalet, The Kennedy Centre, Glostrup, Denmark.; Tranebjærg L; Department of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Denmark.; Rendtorff ND; Department of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.; Grønskov K; Department of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.; Jespersgaard C; Department of Clinical Genetics, Rigshospitalet, The Kennedy Centre, Copenhagen, Denmark.; Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Sun Z; Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.; Li H; Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.; Alirezaie N; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Majewski J; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Bardwell VJ; Department of Genetics, Cell Biology and Development, Development Biology Center, Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA.; Sui R; Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.; Koenekoop RK; Departments of Pediatric Surgery, Human Genetics, Adult Ophthalmology and the McGill Ocular Genetics Laboratory, McGill University Health Center Research Institute, Montreal, QC, Canada.; Cayouette M; Cellular Neurobiology Research Unit, Institut de Recherches Cliniques de Montréal (IRCM), Montréal, QC H2W 1R7, Canada.; Department of Medicine, Université de Montréal, Montreal, QC, Canada.; Department of Anatomy and Cell Biology, Division of Experimental Medicine, McGill University, Montreal, QC, Canada.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: PubMed not MEDLINE; MEDLINE

Rendtorff ND; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. nanna.dahl.rendtorff@regionh.dk.; Karstensen HG; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Lodahl M; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Tolmie J; Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, Scotland.; McWilliam C; Clinical Genetics, Human Genetics Unit, Ninewells Hospital, Dundee, Scotland.; Bak M; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Nazaryan-Petersen L; Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Kunst H; Department of Otorhinolaryngology, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Maastricht University Medical Center, Maastricht, The Netherlands.; Wong M; Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Tranebjærg L; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. tranebjaerg@sund.ku.dk.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. tranebjaerg@sund.ku.dk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Abdelfatah N; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Mostafa AA; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; French CR; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Doucette LP; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Penney C; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Lucas MB; Faculty of Health Sciences, National Centre for Audiology and School of Communication Sciences and Disorders, Western University, London, ON, Canada.; Griffin A; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Booth V; Faculty of Science, Memorial University, St. John's, NL, Canada.; Rowley C; Faculty of Science, Memorial University, St. John's, NL, Canada.; Besaw JE; Department of Chemistry, University of Toronto, Toronto, ON, Canada.; Tranebjærg L; The Kennedy Centre, Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Rendtorff ND; The Kennedy Centre, Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.; Hodgkinson KA; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Little LA; Faculty of Health Sciences, National Centre for Audiology and School of Communication Sciences and Disorders, Western University, London, ON, Canada.; Agrawal S; Department of Otolaryngology, Head and Neck Surgery, London Health Sciences Centre, University Hospital, Western University, London, ON, Canada.; Parnes L; Department of Otolaryngology, Head and Neck Surgery, London Health Sciences Centre, University Hospital, Western University, London, ON, Canada.; Batten T; ENT Consultants, St. John's, NL, Canada.; Moore S; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Hu P; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.; Pater JA; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Houston J; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Galutira D; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Benteau T; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; MacDonald C; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; French D; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; O'Rielly DD; Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Eastern Health, St. John's, NL, Canada.; Stanton SG; Faculty of Health Sciences, National Centre for Audiology and School of Communication Sciences and Disorders, Western University, London, ON, Canada.; Young TL; Faculty of Medicine, Memorial University, St. John's, NL, Canada. tlyoung@mun.ca.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Domínguez-Ruiz M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.; Rodríguez-Ballesteros M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.; Gandía M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.; Gómez-Rosas E; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.; Villamar M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.; Scimemi P; Department of Neurosciences, University of Padua, 35121 Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, 30122 Venice, Italy.; Mancini P; Department of Sense Organs, University La Sapienza, 00162 Rome, Italy.; Rendtorff ND; Department of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark.; Moreno-Pelayo MA; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.; Tranebjaerg L; Department of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, DK-2100 Copenhagen, Denmark.; Medà C; Unidad de Prevención de Enfermedades del Oído, Conselleria de Salut, Illes Balears, 07120 Palma de Mallorca, Spain.; Santarelli R; Department of Neurosciences, University of Padua, 35121 Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, 30122 Venice, Italy.; Del Castillo I; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Moldenæs MF; Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway.; Rendtorff ND; The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark. Electronic address: nanna.dahl.rendtorff@regionh.dk.; Hindbæk LS; The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Nilssen Ø; Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Department of Medical Genetics, University Hospital of North-Norway, Tromsø, Norway.; Tranebjærg L; The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Electronic address: tranebjaerg@sund.ku.dk.

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

Ascari G; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Rendtorff ND; The Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; De Bruyne M; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Van Lint M; Department of Ophthalmology, Antwerp University Hospital, Antwerp, Belgium.; Bauwens M; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Van Heetvelde M; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Arno G; Great Ormond Street Hospital, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.; UCL Institute of Ophthalmology, London, United Kingdom.; Jacob J; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.; Creytens D; Department of Pathology, Ghent University Hospital, Ghent, Belgium.; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; Van Dorpe J; Department of Pathology, Ghent University Hospital, Ghent, Belgium.; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; Van Laethem T; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Rosseel T; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; De Pooter T; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Neuromics Support Facility, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; De Rijk P; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Neuromics Support Facility, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Menten B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Rey AD; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Strazisar M; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Neuromics Support Facility, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Bertelsen M; The Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, Glostrup, Denmark.; Tranebjaerg L; The Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE

Tranebjærg, Lisbeth; Barrett, Timothy; Rendtorff, ND

Tranebjærg , L , Barrett , T & Rendtorff , ND 2013 , ' WFS1 -Related Disorders ' , GeneReviews , pp. 1-26 . <