부산대학교 도서관

W. L. Chan; C. H. Bucher; J. Goldes; A. C. Ma; M. Steiner; B. M. Willie; S. Mundlos; U. Kornak

Aging Cell

Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, 07747 Jena, Germany.; Singer S; Institut für Medizinische Genetik und Angewandte Genomik, Calwerstr. 7, 72076 Tübingen, Germany.; Mau-Holzmann U; Institut für Medizinische Genetik und Angewandte Genomik, Calwerstr. 7, 72076 Tübingen, Germany.; Kankel S; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, 07747 Jena, Germany.; Padutsch N; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, 07747 Jena, Germany.; Person L; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Am Klinikum 1, 07747 Jena, Germany.; Daumiller E; Genetikum Stuttgart, Lautenschlagerstr. 23, 70173 Stuttgart, Germany.; Kornak U; Universitätsmedizin Göttingen, Institut für Humangenetik, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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

Kornak, U.; Saha, N.; Keren, B.; Neumann, A.; Taylor Tavares, A. L.; Piard, J.; Kopp, J.; Rodrigues Alves, J. G.; Rodríguez de los Santos, M.; El Choubassi, N.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J. T.; Lejeune, E.; Fauler, B.; Mielke, T.; Hecht, J.; Meierhofer, D.; Strom, T. M.; Laugel, V.; Gerard-Loiseau, Sandra; Mundlos, S.; Bertoli-Avella, A.; Bauer, P.; Heyd, F.; Boute, Odile; Dupont, J.; Depienne, C.; van Maldergem, L.; Fischer-Zirnsak, B.

Genetics in Medicine. 24:1927-1940

Munteanu M; Department of Pediatrics II, University of Duisburg-Essen, University Hospital Essen (member of ENDO-ERN; member of BOND- ERN), Essen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Georg-August-University, Göttingen, Germany. Electronic address: martin.munteanu@uk-essen.de.; Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.; Nitschke Y; Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Georg-August-University, Göttingen, Germany.; Kiewert C; Department of Pediatrics II, University of Duisburg-Essen, University Hospital Essen (member of ENDO-ERN; member of BOND- ERN), Essen, Germany.; Spiekermann J; Department of Pediatrics III, University of Duisburg-Essen, University Hospital Essen, Essen, Germany.; Höppner J; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Grasemann C; Department of Pediatrics, University Hospital Mainz, Mainz, Germany.

Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

Rolvien, T; Yorgan, T A; Kornak, U.; Hermans-Borgmeyer, I; Mundlos, S; Schmidt, T; Niemeier, A; Schinke, T; Amling, M; Oheim, R

Osteoarthritis and Cartilage. 28:334-343

Bartosik M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Prengel M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Delsmann J; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Department of Trauma and Orthopaedic Surgery, Division Orthopaedics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Oswald J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Barvencik F; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Amling M; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.; Oheim R; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. r.oheim@uke.de.

Publisher: Springer International Country of Publication: England NLM ID: 9100105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-2965 (Electronic) Linking ISSN: 0937941X NLM ISO Abbreviation: Osteoporos Int Subsets: MEDLINE

Monteiro I; Departamento de Medicina, Serviço de Medicina Interna, Unidade Local de Saúde de Matosinhos EPE, Hospital Pedro Hispano, Matosinhos, Portugal.; Institut für Humangenetik Universitätsmedizin Göttingen, Göttingen, Germany.; Moutinho-Pereira S; Departamento de Medicina, Serviço de Medicina Interna, Unidade Local de Saúde de Matosinhos EPE, Hospital Pedro Hispano, Matosinhos, Portugal.; Kornak U; Institut für Humangenetik Universitätsmedizin Göttingen, Göttingen, Germany.; Carneiro L; Departamento de Medicina, Serviço de Medicina Interna, Unidade Local de Saúde de Matosinhos EPE, Hospital Pedro Hispano, Matosinhos, Portugal.

Publisher: SMC Media Country of Publication: Italy NLM ID: 101648453 Publication Model: eCollection Cited Medium: Internet ISSN: 2284-2594 (Electronic) Linking ISSN: 22842594 NLM ISO Abbreviation: Eur J Case Rep Intern Med Subsets: PubMed not MEDLINE

Kopp, J.; Jahn, D.; Vogt, G.; Stelzer, N.; Hoffmann, A.; de los Santos, M.R.; Koch, L.A.; Fischer-Zirnsak, B.; Psoma, A.; van den Bogaart, G.; Ratto, E.; Palm, W.; Morelle, W.; Foulquier, F.; Hausser, I.; Thiel, C.; Meierhofer, D.; Meinhardt, A.; Kornak, U.

In: Cellular and Molecular Life Sciences. (Cellular and Molecular Life Sciences, December 2025, 82(1))

Jack Carson Taylor; Hilary W. Heuer; Annie L. Clark; Amy B. Wise; Masood Manoochehri; Leah Forsberg; Carly Mester; Meghana Rao; Daniell Brushaber; Joel Kramer; Ariane E. Welch; John Kornak; Walter Kremers; Brian Appleby; Bradford C. Dickerson; Kimiko Domoto‐Reilly; Julie A. Fields; Nupur Ghoshal; Neill Graff‐Radford; Murray Grossman; Matthew GH Hall; Edward D. Huey; David Irwin; Maria I. Lapid; Irene Litvan; Ian R. Mackenzie; Joseph C. Masdeu; Mario F. Mendez; Naomi Nevler; Chiadi U. Onyike; Belen Pascual; Peter Pressman; Katherine P. Rankin; Buddhika Ratnasiri; Julio C. Rojas; Maria Carmela Tartaglia; Bonnie Wong; Maria Luisa Gorno‐Tempini; Bradley F. Boeve; Howard J. Rosen; Adam L. Boxer; Adam M. Staffaroni

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 15, Iss 2, Pp n/a-n/a (2023)

Fratzl-Zelman N; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, 1140 Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria.; Blouin S; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, 1140 Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany.; Hartmann MA; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, 1140 Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria.; Kurth AA; Center for Orthopaedics and Trauma Surgery, Marienhaus Klinikum Mainz, 55131 Mainz, Germany.; Zwerina J; Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, 1140 Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

Gajewski D; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Hennig AF; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Grün R; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Siggelkow H; MVZ Endokrinologikum Göttingen, 37075 Göttingen, Germany.; Department of Trauma, Orthopedics and Reconstructive Surgery, University Medical Center Göttingen, 37075 Göttingen, Germany.; Vishnolia S; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Bastian L; Department of Orthopedics and Trauma Surgery, Hospital Leverkusen, 51375 Leverkusen, Germany.; Taipaleenmäki H; Institute of Musculoskeletal Medicine, LMU University Hospital, LMU Munich, 82152 Planegg-Martinsried, Germany.; Musculoskeletal University Center Munich, LMU University Hospital, LMU Munich, 82152 Planegg-Martinsried, Germany.; Schulz A; Department of Pediatrics, University Medical Center Ulm, 89075 Ulm, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; MVZ Endokrinologikum Göttingen, 37075 Göttingen, Germany.; Hesse E; Institute of Musculoskeletal Medicine, LMU University Hospital, LMU Munich, 82152 Planegg-Martinsried, Germany.; Musculoskeletal University Center Munich, LMU University Hospital, LMU Munich, 82152 Planegg-Martinsried, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

Rolvien, T; Kornak, U.; Schinke, T; Amling, M; Oheim, R

Osteoporosis International. 30:685-689

Ramaekers, V. Th; Segers, K.; Sequeira, J. M.; Koenig, Michel; van Maldergem, L.; Bours, V.; Kornak, U.; Quadros, E. V.

Molecular Genetics and Metabolism. 124:87-93

Jacobs J; de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.; Lyubenova H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Potelle S; de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.; Kopp J; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute of Chemistry and Biochemistry, Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin, Berlin, Germany.; Gerin I; de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.; Chan WL; Julius Wolff Institute of Biomechanics and Musculoskeletal Regeneration, Charité Universitätsmedizin Berlin, Berlin, Germany.; BIH Center for Regenerative Therapies, Berlin Institute of Health at Charité Universitätsmedizin, Berlin, Germany.; Rodriguez de Los Santos M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Hülsemann W; Hand Surgery Department, Children's Hospital Wilhelmstift, Hamburg, Germany.; Mensah MA; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Medical School Berlin, Berlin, Germany.; Department of Human Genetics, Helios Klinikum Berlin-Buch, Berlin, Germany.; BIH Biomedical Innovation Academy, Digital Clinician Scientist Program, Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany.; Cormier-Daire V; Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR1163, Necker Enfants Malades Hospital, Imagine Institute, Paris, France.; Joosten M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Bruggenwirth HT; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Miranda V; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Campeau PM; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Wittler L; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Graff J; de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.; Mundlos S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.; BIH Center for Regenerative Therapies, Berlin Institute of Health at Charité Universitätsmedizin, Berlin, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany.; Ibrahim DM; Max Planck Institute for Molecular Genetics, Berlin, Germany.; BIH Center for Regenerative Therapies, Berlin Institute of Health at Charité Universitätsmedizin, Berlin, Germany.; Van Schaftingen E; de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium.; Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. nadja.ehmke@charite.de.; Max Planck Institute for Molecular Genetics, Berlin, Germany. nadja.ehmke@charite.de.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany. nadja.ehmke@charite.de.; Bommer GT; de Duve Institute-Biochemistry, UCLouvain, Brussels, Belgium. guido.bommer@uclouvain.be.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.; Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.; Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.; Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany.; Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria.; Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany.; Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany.; Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.; Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: PubMed not MEDLINE; MEDLINE

Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH  UK.; Achleitner MT; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Badmann S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de recherche en Myologie, Paris 75013, France.; Codina M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Ebner L; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Eshraghi P; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eyring K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Farhat AS; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Marcé-Grau A; Department of Pediatric Neurology, Vall d'Hebron University Hospital, Vall d'Hebron Hospital Campus, Barcelona 08035, Spain.; Hahn A; Departments of Neonatology and Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Karimiani EG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Manel V; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, 69500 Bron, France.; Mayerhanser K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Nectoux J; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, 69500 Bron, France.; Nelson I; Sorbonne Université, Inserm, Institut de Myologie, Centre de recherche en Myologie, Paris 75013, France.; Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH  UK.; Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Helmholtz Association-Munich School for Data Science (MUDS), Munich, Germany.; Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen 35392, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Schuler R; Departments of Neonatology and Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Sewry C; Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance, Manchester M6 8HD, UK.; Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry SY10 7AG, UK.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Slanz S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Smirnov D; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba 4428164, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel.; Tajsharghi H; Division of Biomedicine, School of Health Sciences, University of Skovde, Skovde 541 28, Sweden.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.; Ben Yaou R; Sorbonne Université, Inserm, Institut de Myologie, Centre de recherche en Myologie, Paris 75013, France.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Institute for Advanced Study, Technical University of Munich, Garching 85748, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center, Göttingen 37075, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Goméz-Andrés D; Department of Pediatric Neurology, Vall d'Hebron University Hospital, Vall d'Hebron Hospital Campus, Barcelona 08035, Spain.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Winkelmann J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany.; Roos A; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Department of Neurology, Heinrich Heine University Düsseldorf, Düsseldorf 40225, Germany.; Division of Neurology, Department of Medicine, Children' s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L6, Canada.; Distelmaier F; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg 85764, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Peanne, R.; de Lonlay, P.; Foulquier, F.; Kornak, U.; Lefeber, D.J.; Morava, E.; Perez, B.; Seta, N.; Thiel, C; van Schaftingen, E.; Matthijs, G.; Jaeken, J.

European Journal of Medical Genetics, 61, 11, pp. 643-663
European journal of medical genetics, Vol. 61, no.11, p. 643-663 (2018)

Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A.; Adolphs, N.; Saha, N.; Fauler, B.; Kalscheuer, V.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C.; Bonnen, P.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.

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Rauner, M.; Buttgereit, F.; Distler, J.; Garbe, A.; Herrmann, M.; Hofbauer, L.; Hoffmann, M.; Jessberger, R.; Kornak, U.; Krönke, G.; Mundlos, S.; Spies, C.; Tuckermann, J.; Zwerina, J.

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