换一批
第一作者：
Holger,Hengel
第一单位：
Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases, 72076 Tübingen, Germany.
作者：
Holger,Hengel [1]
;
Shabab B,Hannan [1]
;
Sarah,Dyack [2]
;
Sara B,MacKay [3]
;
Ulrich,Schatz [4]
;
Martin,Fleger [5]
;
Andreas,Kurringer [5]
;
Ghassan,Balousha [6]
;
Zaid,Ghanim [7]
;
Fowzan S,Alkuraya [8]
;
Hamad,Alzaidan [9]
;
Hessa S,Alsaif [10]
;
Tadahiro,Mitani [11]
;
Sevcan,Bozdogan [12]
;
Davut,Pehlivan [13]
;
James R,Lupski [14]
;
Joseph J,Gleeson [15]
;
Mohammadreza,Dehghani [16]
;
Mohammad Y V,Mehrjardi [17]
;
Elliott H,Sherr [18]
;
Kendall C,Parks [18]
;
Emanuela,Argilli [18]
;
Amber,Begtrup [19]
;
Hamid,Galehdari [20]
;
Osama,Balousha [21]
;
Gholamreza,Shariati [22]
;
Neda,Mazaheri [20]
;
Reza A,Malamiri [23]
;
Alistair T,Pagnamenta [24]
;
Helen,Kingston [25]
;
Siddharth,Banka [26]
;
Adam,Jackson [27]
;
Mathew,Osmond [28]
;
Care4Rare Canada Consortium [28]
;
Genomics England Research Consortium [29]
;
Angelika,Rieß [30]
;
Tobias B,Haack [30]
;
Thomas,Nägele [31]
;
Stefanie,Schuster [1]
;
Stefan,Hauser [1]
;
Jakob,Admard [32]
;
Nicolas,Casadei [32]
;
Ana,Velic [33]
;
Boris,Macek [33]
;
Stephan,Ossowski [32]
;
Henry,Houlden [34]
;
Reza,Maroofian [35]
;
Ludger,Schöls [36]
作者单位：
Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases, 72076 Tübingen, Germany.
[1]
Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada.
[2]
Maritime Medical Genetics Service IWK Health Centre, Halifax, NS B3R 6R8 Canada.
[3]
Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr. Str. 1, 6020 Innsbruck, Austria; Institute of Human Genetics, Technical University of Munich, Trogerstr. 32, 81675 Munich, Germany.
[4]
Department of Pediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Str. 2, 6900 Bregenz, Austria.
[5]
Department of Pathology and Histology, Al-Quds University, Eastern Jerusalem 19356, Palestine.
[6]
Palestine Medical Complex, Ramallah, Palestine.
[7]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
[8]
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
[9]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
[10]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[11]
Department of Medical Genetics, Cukurova University Faculty of Medicine, 01330 Adana, Turkey.
[12]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
[14]
Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
[15]
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
[16]
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
[17]
Department of Neurology and Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
[18]
GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
[19]
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
[20]
Faculty of Medicine, Al-Quds University, Eastern Jerusalem 19356, Palestine.
[21]
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
[22]
Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
[23]
National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
[24]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
[25]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9WL, UK.
[26]
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9WL, UK.
[27]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
[28]
Genomics England, London EC1M 6BQ, UK.
[29]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
[30]
Department of Neuroradiology, University Hospital of Tuebingen, 72076 Tübingen, Germany.
[31]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; NGS Competence Center Tübingen, University of Tübingen, 72076 Tübingen, Germany.
[32]
Proteome Center Tübingen, University of Tübingen, 72076 Tübingen, Germany.
[33]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
[34]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address: rmaroofian@gmail.com.
[35]
Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases, 72076 Tübingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de.
[36]
医学主题词
青少年(Adolescent);成年人(Adult);动物(Animals);细胞运动(Cell Movement);儿童(Child);儿童, 学龄前(Child, Preschool);果蝇属(Drosophila);女(雌)性(Female);成纤维细胞(Fibroblasts);人类(Humans);婴儿(Infant);杂合子丢失(Loss of Heterozygosity);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);肿瘤蛋白质类(Neoplasm Proteins);系谱(Pedigree);蛋白质组(Proteome);青年人(Young Adult)
DOI
10.1016/j.ajhg.2021.04.024
PMID
34022130
发布时间
2021-09-24
- 浏览2
American journal of human genetics
American journal of human genetics
1069-1082页
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