换一批
换一批Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
第一作者：
David,Picketts
第一单位：
Ottawa Hospital Research Institute.
作者：
David,Picketts [1]
;
Ghayda,Mirzaa [2]
;
Keqin,Yan [1]
;
Raissa,Relator [3]
;
Sara,Timpano [1]
;
Binnaz,Yalcin [4]
;
Stephan,Collins [5]
;
Alban,Ziegler [6]
;
Emily,Pao [7]
;
Nora,Oyama [7]
;
Elise,Brischoux-Boucher [8]
;
Juliette,Piard [9]
;
Kristin,Monaghan [10]
;
Maria Guillen,Sacoto [11]
;
William,Dobyns [12]
;
Kristen,Park [13]
;
Daniel,Fernández-Mayoralas [14]
;
Alberto,Fernández-Jaén [15]
;
Parul,Jayakar [16]
;
Alfredo,Brusco [17]
;
Vincenzo,Antona [18]
;
Elisa,Giorgio [19]
;
Malin,Kvarnung [20]
;
Bertrand,Isidor [21]
;
Solène,Conrad [22]
;
Benjamin,Cogné [23]
;
Wallid,Deb [22]
;
K E,Stuurman [24]
;
Katalin,Sterbova [25]
;
Noor,Smal [26]
;
Sarah,Weckhuysen [26]
;
Renske,Oegema [27]
;
Micheil,Innes [28]
;
Maeson,Latsko [29]
;
Tawfeg,Ben-Omran [30]
;
Rebecca,Yeh [31]
;
Michael,Kruer [32]
;
Somayeh,Bakhtiari [33]
;
Antigone,Papavasiliou [34]
;
Sébastien,Moutton [35]
;
Sophie,Nambot [36]
;
Sirisak,Chanprasert [37]
;
Sarah,Paolucci [37]
;
Kait,Miller [38]
;
Barbara,Burton [39]
;
Katherine,Kim [39]
;
Emily,O'Heir [40]
;
Zandre,Bruwer [41]
;
Kirsten,Donald [42]
;
Tjitske,Kleefstra [43]
;
Amy,Goldstein [44]
;
Brad,Angle [45]
;
Kelly,Bontempo [45]
;
Peter,Miny [46]
;
Pascal,Joset [46]
;
Florence,Demurger [47]
;
Emma,Hobson [48]
;
Lewis,Pang [49]
;
Lori,Carpenter [50]
;
Dong,Li [51]
;
Dominique,Bonneau [52]
;
Bekim,Sadikovic
作者单位：
Ottawa Hospital Research Institute.
[1]
Seattle Children's Hospital.
[2]
London Health Sciences Centre.
[3]
Inserm.
[4]
INSERM UMR-S 1231, University of Bourgogne Franche-Comté.
[5]
University Hospital of Angers.
[6]
Seattle Children's Research Institute.
[7]
Université de Franche-Comté.
[8]
CHU Besançon.
[9]
GeneDx.
[10]
GeneDx, Gaithersburg, MD.
[11]
University of Minnesota.
[12]
University of Colorado Denver School of Medicine.
[13]
Hospital Universitario Quirónsalud.
[14]
Department of Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid.
[15]
Division of Genetics and Metabolism, Nicklaus Children's Hospital.
[16]
University of Turin.
[17]
University of Palermo.
[18]
University of Pavia.
[19]
Karolinska Institutet.
[20]
CHU de Nantes.
[21]
Nantes Université.
[22]
CHU Nantes.
[23]
Department of Clinical Genetics, Erasmus University Medical Center.
[24]
Charles University and Motol Hospital.
[25]
VIB Center for Molecular Neurology.
[26]
University Medical Center Utrecht.
[27]
University of Calgary.
[28]
The Steve and Cindy Rasmussen Institute for Genomic Medicine.
[29]
Hamad Medical Corporation.
[30]
Boston Children's Hospital.
[31]
Phoenix Children's Hospital.
[32]
University of Arizona College of Medicine.
[33]
IASO Children's Hospital.
[34]
CHU François Mitterrand.
[35]
Centre de Génétique et Centre de référence «Anomalies du Développement et Syndromes Malformatifs», Hôpital d'Enfants, Centre Hospitalier.
[36]
University of Washington.
[37]
University of Washington School of Medicine.
[38]
Northwestern University Feinberg School of Medicine.
[39]
Broad Institute of MIT and Harvard.
[40]
University of Cape Town.
[41]
Division of Developmental Paediatrics, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Klipfontein Road/Private Bag, Rondebosch, 7700/7701, Cape Town, South A.
[42]
Radboud University Medical Centre.
[43]
Children's Hospital of Pittsburgh of UPMC.
[44]
Advocate Children's Hospital.
[45]
University Hospital Basel.
[46]
Institute of Genetics & Development of Rennes.
[47]
Leeds Teaching Hospitals Trust.
[48]
Royal Devon and Exeter.
[49]
St Francis Health Systems.
[50]
The Children's Hospital of Philadelphia.
[51]
Department of Biochemistry and Genetics, University Hospital of Angers, F-49000.
[52]
DOI
10.21203/rs.3.rs-3317938/v1
PMID
37841849
发布时间
2024-09-23
- 浏览0
Research square
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
