换一批
换一批
作者：
Jet,van der Spek [1]
;
Joery,den Hoed [2]
;
Lot,Snijders Blok [3]
;
Alexander J M,Dingemans [1]
;
Dick,Schijven [4]
;
Christoffer,Nellaker [5]
;
Hanka,Venselaar [6]
;
Galuh D N,Astuti [7]
;
Tahsin Stefan,Barakat [8]
;
E Martina,Bebin [9]
;
Stefanie,Beck-Wödl [10]
;
Gea,Beunders [11]
;
Natasha J,Brown [12]
;
Theresa,Brunet [13]
;
Han G,Brunner [14]
;
Philippe M,Campeau [15]
;
Goran,Čuturilo [16]
;
Christian,Gilissen [17]
;
Tobias B,Haack [10]
;
Irina,Hüning [18]
;
Ralf A,Husain [19]
;
Benjamin,Kamien [20]
;
Sze Chern,Lim [21]
;
Luca,Lovrecic [22]
;
Janine,Magg [23]
;
Ales,Maver [22]
;
Valancy,Miranda [15]
;
Danielle C,Monteil [24]
;
Charlotte W,Ockeloen [25]
;
Lynn S,Pais [26]
;
Vasilica,Plaiasu [27]
;
Laura,Raiti [21]
;
Christopher,Richmond [28]
;
Angelika,Rieß [10]
;
Eva M C,Schwaibold [29]
;
Marleen E H,Simon [30]
;
Stephanie,Spranger [31]
;
Tiong Yang,Tan [12]
;
Michelle L,Thompson [32]
;
Bert B A,de Vries [1]
;
Ella J,Wilkins [21]
;
Marjolein H,Willemsen [25]
;
Clyde,Francks [33]
;
Lisenka E L M,Vissers [1]
;
Simon E,Fisher [33]
;
Tjitske,Kleefstra [34]
作者单位：
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.
[1]
Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
[2]
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; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
[3]
Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
[4]
Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, United Kingdom; Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, United Kingdom; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.
[5]
Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands.
[6]
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.
[7]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[8]
Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.
[9]
Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[10]
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
[11]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
[12]
Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany.
[13]
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; Department of Clinical Genetics, Maastricht University Medical Center, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
[14]
CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
[15]
University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
[16]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
[17]
Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
[18]
Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
[19]
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
[20]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
[21]
Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.
[22]
Department of Neuropaediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen, Germany.
[23]
Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA.
[24]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[25]
Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
[26]
INSMC Alessandrescu-Rusescu, Regional Center of Medical Genetics Bucharest, Bucharest, Romania.
[27]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Genetic Health Queensland, Royal Brisbane and Women's hospital, Herston, Queensland, Australia; School of Medicine, Griffith University, Southport, Queensland, Australia.
[28]
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[29]
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
[30]
Praxis für Humangenetik-Bremen, Bremen, Germany.
[31]
HudsonAlpha Institute for Biotechnology, Huntsville, AL.
[32]
Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands.
[33]
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; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. Electronic address: Tjitske.Kleefstra@radboudumc.nl.
[34]
主题词
DNA解旋酶类(DNA Helicases);杂合子(Heterozygote);人类(Humans);Mi-2型核小体重塑和脱乙酰基酶复合物(Mi-2 Nucleosome Remodeling and Deacetylase Complex);表型(Phenotype);综合征(Syndrome)
DOI
10.1016/j.gim.2022.02.014
PMID
35346573
发布时间
2023-03-08
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Genetics in medicine
Genetics in medicine
1283-1296页
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