换一批The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
第一作者：
Lenaerts, Lisa
作者：
Lenaerts, Lisa [1]
;
Reynhout, Sara [2]
;
Verbinnen, Iris [3]
;
Laumonnier, Frederic [4]
;
Toutain, Annick [5]
;
Bonnet-Brilhault, Frederique [6]
;
Hoorne, Yana [7]
;
Joss, Shelagh [8]
;
Chassevent, Anna K. [9]
;
Smith-Hicks, Constance [10]
;
Loeys, Bart [11]
;
Joset, Pascal [12]
;
Steindl, Katharina [13]
;
Rauch, Anita [14]
;
Mehta, Sarju G. [15]
;
Chung, Wendy K. [16]
;
Devriendt, Koenraad [17]
;
Holder, Susan E. [18]
;
Jewett, Tamison [19]
;
Baldwin, Lauren M. [20]
;
Wilson, William G. [21]
;
Towner, Shelley [22]
;
Srivastava, Siddharth [23]
;
Johnson, Hannah F. [24]
;
Daumer-Haas, Cornelia [25]
;
Baethmann, Martina [26]
;
Ruiz, Anna [27]
;
Gabau, Elisabeth [28]
;
Jain, Vani [29]
;
Varghese, Vinod [30]
;
Al-Beshri, Ali [31]
;
Fulton, Stephen [32]
;
Wechsberg, Oded [33]
;
Orenstein, Naama [34]
;
Prescott, Katrina [35]
;
Childs, Anne-Marie ;
Faivre, Laurence ;
Moutton, Sebastien ;
Sullivan, Jennifer A. ;
Shashi, Vandana ;
Koudijs, Suzanne M. ;
Heijligers, Malou ;
Kivuva, Emma ;
McTague, Amy ;
Male, Alison ;
van Ierland, Yvette ;
Plecko, Barbara ;
Maystadt, Isabelle ;
Hamid, Rizwan ;
Hannig, Vickie L. ;
Houge, Gunnar ;
Janssens, Veerle
作者单位：
Univ Zurich, Inst Med Genet, Zurich, Switzerland
[1]
Queen Elizabeth Univ Hosp, West Scotland Ctr Genom Med, Glasgow, Lanark, Scotland
[2]
CHU Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, FHU TRANSLAD, UMR1231 GAD, Dijon
[3]
Addenbrookes Hosp, East Anglian Reg Med Genet Serv, Cambridge, England
[4]
Univ Autonoma Barcelona, Inst Invest & Innovac Parc Tauli I3PT, Parc Tauli Hosp Univ, UDIAT Ctr
[5]
Univ Virginia, Dept Pediat, Charlottesville, VA USA
[6]
Univ Leuven, Dept Cellular & Mol Med, Lab Prot Phosphorylat & Prote, KU Leuven, Leuven, Belgium
[7]
Maastricht UMC, Dept Clin Genet, Maastricht, Netherlands
[8]
Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA
[9]
Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel
[10]
UCL Great Ormond St Inst Child Hlth, Dev Neurosci, London, England
[11]
Med Univ Graz, Dept Pediat & Adolescent Med, Div Gen Pediat, Graz, Austria
[12]
Univ Antwerp, Ctr Med Genet, Antwerp Univ Hosp, Antwerp, Belgium
[13]
Leeds Teaching Hosp NHS Trust, Yorkshire Reg Genet Dept, Leeds, W Yorkshire, England
[14]
Royal Devon & Exeter NHS Fdn Trust, Exeter, Devon, England
[15]
Wake Forest Univ, Wake Forest Sch Med, Winston Salem, NC 27101 USA
[16]
Univ Autonoma Barcelona, Inst Invest & Innovac Parc Tauli I3PT, Parc Tauli Hosp Univ, Paediat Unit
[17]
Le Bonheur Childrens Hosp, Memphis, TN USA
[18]
Maison Sante Bordeaux Bagatelle, CPDPN, Pole Mere Enfant, Talence, France
[19]
Leeds Teaching Hosp NHS Trust, Dept Neurol, Leeds, W Yorkshire, England
[20]
Univ Leuven, Dept Human Genet, KU Leuven, Leuven, Belgium
[21]
Prenatal Med Munich, Munich, Germany
[22]
Vanderbilt Univ, Med Ctr, Nashville, TN USA
[23]
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
[24]
Klinikum Dritter Orden Munchen, Pediat Neurol, Sozialpadiatr Zentrum, Munich, Germany
[25]
North West Thames Reg Genet Serv, London, England
[26]
Boston Childrens Hosp, Dept Neurol, Boston, MA USA
[27]
Maastricht UMC, Maastricht, Netherlands
[28]
Univ Alabama Birmingham, Internal Med & Med Genet, Birmingham, AL USA
[29]
Columbia Univ, Med Ctr, New York, NY USA
[30]
Univ Hosp Wales, All Wales Med Genom Serv, Cardiff, Wales
[31]
Univ Tours, iBrain, INSERM, UMR1253, Tours, France
[32]
Kennedy Krieger Inst, Baltimore, MD USA
[33]
Haukeland Hosp, Dept Med Genet, Bergen, Norway
[34]
Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium
[35]
发布时间
2021-11-26
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Genetics in medicine
Genetics in medicine
352-362页
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