Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Smits JJ"'
Publikováno v:
Tijdschrift Voor Kindergeneeskunde; Aug2000, Vol. 68 Issue 4, p121-126, 6p
Autor:
Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark., Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark., Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA., Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain., Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA., Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands., Potgieter ST; Laurentius Hospital, Roermond, the Netherlands., Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK., Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland., Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan., Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany., Spranger S; Practice of Human Genetics, Bremen, Germany., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia., Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia., Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA., Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK., Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA., Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany., Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France., Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca., Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16.
Autor:
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.
Publikováno v:
HGG advances [HGG Adv] 2023 Jan 18; Vol. 4 (2), pp. 100181. Date of Electronic Publication: 2023 Jan 18 (Print Publication: 2023).
Autor:
Smits JJ; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Lanting CP; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Oostrik J; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., O'Gorman L; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vrieze E; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., Pegge SAH; Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pennings RJE; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kremer H; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.
Publikováno v:
Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 991.
Autor:
van Kempen CMA; Dept. Oto-Rhino-Laryngology, Head and Neck Surgery, Radboudumc Nijmegen, the Netherlands., Beynon AJ; Dept. Oto-Rhino-Laryngology, Head and Neck Surgery, Radboudumc Nijmegen, the Netherlands. Electronic address: andy.beynon@radboudumc.nl., Smits JJ; Dept. Oto-Rhino-Laryngology, Head and Neck Surgery, Radboudumc Nijmegen, the Netherlands., Janssen MCH; Dept. Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboudumc Nijmegen, the Netherlands.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Apr; Vol. 135 (4), pp. 333-341. Date of Electronic Publication: 2022 Feb 15.
Autor:
Smits JJ; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Lanting CP; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Oostrik J; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., O'Gorman L; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vrieze E; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands., Pegge SAH; Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pennings RJE; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kremer H; Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.; Department of Human Genetics, Radboud University Medical Center, Internal Postal Code 855, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.
Publikováno v:
Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 465-484. Date of Electronic Publication: 2021 Aug 19.
Autor:
Robijn SMM; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands., Smits JJ; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Sezer K; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Huygen PLM; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Beynon AJ; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., van Wijk E; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands., Kremer H; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., de Vrieze E; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands., Lanting CP; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands., Pennings RJE; Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, The Netherlands.
Publikováno v:
Biomolecules [Biomolecules] 2022 Jan 27; Vol. 12 (2). Date of Electronic Publication: 2022 Jan 27.
Autor:
Bassani S; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy., van Beelen E; Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands., Rossel M; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France., Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Morgan A; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy., Arribat Y; Department of Biomedical Sciences, University of Lausanne, Lausanne, Switzerland., Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Cocca M; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy., Delprat B; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France., Faletra F; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy., Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland., Machavoine R; Centre de référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France., Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Smits JJ; Hearing and Genes, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Ziegler A; Centre de référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France., Amati F; Department of Biomedical Sciences, University of Lausanne, Lausanne, Switzerland., Marlin S; Centre de référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France., Kremer H; Hearing and Genes, Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Locher H; Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands., Maurice T; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France., Gasparini P; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy., Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.; Institute for Maternal and Child Health, IRCCS, Burlo Garofolo, Trieste, Italy., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2021 Sep 15; Vol. 30 (19), pp. 1785-1796.
Autor:
Chen T; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Rohacek AM; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Caporizzo M; Department of Physiology, Pennsylvania Muscle Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Nankali A; The Caruso Department of Otolaryngology-Head and Neck Surgery, University of Southern California, Los Angeles, CA, USA., Smits JJ; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Oostrik J; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Lanting CP; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Kücük E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Pennings RJE; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Rakowiecki SM; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kaestner KH; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ohlemiller KK; Department of Otolaryngology-Head and Neck Surgery, Washington University School of Medicine, St. Louis, MO, USA., Oghalai JS; The Caruso Department of Otolaryngology-Head and Neck Surgery, University of Southern California, Los Angeles, CA, USA., Kremer H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Prosser BL; Department of Physiology, Pennsylvania Muscle Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Epstein DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: epsteind@pennmedicine.upenn.edu.
Publikováno v:
Developmental cell [Dev Cell] 2021 May 17; Vol. 56 (10), pp. 1526-1540.e7. Date of Electronic Publication: 2021 May 07.
Autor:
Smits JJ; Department of Otorhinolaryngology, Hearing & Genes.; Donders Institute for Brain, Cognition and Behaviour., van Beelen E; Department of Otorhinolaryngology, Hearing & Genes., Weegerink NJD; Department of Otorhinolaryngology, Hearing & Genes., Oostrik J; Department of Otorhinolaryngology, Hearing & Genes., Huygen PLM; Department of Otorhinolaryngology, Hearing & Genes., Beynon AJ; Department of Otorhinolaryngology, Hearing & Genes., Lanting CP; Department of Otorhinolaryngology, Hearing & Genes.; Donders Institute for Brain, Cognition and Behaviour., Kunst HPM; Department of Otorhinolaryngology, Hearing & Genes.; Radboud Institute for Health Sciences., Schraders M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kremer H; Department of Otorhinolaryngology, Hearing & Genes.; Donders Institute for Brain, Cognition and Behaviour.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vrieze E; Department of Otorhinolaryngology, Hearing & Genes.; Donders Institute for Brain, Cognition and Behaviour., Pennings RJE; Department of Otorhinolaryngology, Hearing & Genes.; Donders Institute for Brain, Cognition and Behaviour.
Publikováno v:
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2021 Apr 01; Vol. 42 (4), pp. e399-e407.