首页 | 本学科首页   官方微博 | 高级检索  
     


Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Affiliation:1. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA;2. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA;3. Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA;4. Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA;5. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA;6. Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;7. Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, UK;8. Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland;9. Pediatric Neurology Unit, Pediatrics Subspecialties Service, Geneva Children’s Hospital, Geneva, Switzerland;10. Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil;11. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;12. Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA;13. Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA;14. Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;15. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA;16. Department of Rare Disease Genomics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;1. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA;2. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA;3. Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA;4. Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA;5. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA;6. Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;7. Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, UK;8. Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland;9. Pediatric Neurology Unit, Pediatrics Subspecialties Service, Geneva Children’s Hospital, Geneva, Switzerland;10. Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil;11. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;12. Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA;13. Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA;14. Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;15. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA;16. Department of Rare Disease Genomics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Abstract:
Keywords:
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号