Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
第一作者:
Palmer, Elizabeth E.
作者:
Palmer, Elizabeth E. [1]
;
Pusch, Michael [2]
;
Picollo, Alessandra [3]
;
Forwood, Caitlin [4]
;
Nguyen, Matthew H. [5]
;
Suckow, Vanessa [6]
;
Gibbons, Jessica [7]
;
Hoff, Alva [8]
;
Sigfrid, Lisa [9]
;
Megarbane, Andre [10]
;
Nizon, Mathilde [11]
;
Cogne, Benjamin [12]
;
Beneteau, Claire [13]
;
Alkuraya, Fowzan S. [14]
;
Chedrawi, Aziza [15]
;
Hashem, Mais O. [16]
;
Stamberger, Hannah [17]
;
Weckhuysen, Sarah [18]
;
Vanlander, Arnaud [19]
;
Ceulemans, Berten [20]
;
Rajagopalan, Sulekha [21]
;
Nunn, Kenneth [22]
;
Arpin, Stephanie [23]
;
Raynaud, Martine [24]
;
Motter, Constance S. [25]
;
Ward-Melver, Catherine [26]
;
Janssens, Katrien [27]
;
Meuwissen, Marije [28]
;
Beysen, Diane [29]
;
Dikow, Nicola [30]
;
Grimmel, Mona [31]
;
Haack, Tobias B. [32]
;
Clement, Emma [33]
;
McTague, Amy [34]
;
Hunt, David [35]
;
Townshend, Sharron [36]
;
Ward, Michelle [37]
;
Richards, Linda J. [38]
;
Simons, Cas [39]
;
Costain, Gregory [40]
;
Dupuis, Lucie [41]
;
Mendoza-Londono, Roberto [42]
;
Dudding-Byth, Tracy [43]
;
Boyle, Jackie [44]
;
Saunders, Carol [45]
;
Fleming, Emily [46]
;
El Chehadeh, Salima [47]
;
Spitz, Marie-Aude [48]
;
Piton, Amelie [49]
;
Gerard, Benedicte [50]
;
Warde, Marie-Therese Abi [51]
;
Rea, Gillian [52]
;
McKenna, Caoimhe [53]
;
Douzgou, Sofia [54]
;
Banka, Siddharth [55]
;
Akman, Cigdem [56]
;
Bain, Jennifer M. [57]
;
Sands, Tristan T. [58]
;
Wilson, Golder N. [59]
;
Silvertooth, Erin J. [60]
;
Miller, Lauren [61]
;
Lederer, Damien [62]
;
Sachdev, Rani ;
Macintosh, Rebecca ;
Monestier, Olivier ;
Karadurmus, Deniz ;
Collins, Felicity ;
Carter, Melissa ;
Rohena, Luis ;
Willemsen, Marjolein H. ;
Ockeloen, Charlotte W. ;
Pfundt, Rolph ;
Kroft, Sanne D. ;
Field, Michael ;
Laranjeira, Francisco E. R. ;
Fortuna, Ana M. ;
Soares, Ana R. ;
Michaud, Vincent ;
Naudion, Sophie ;
Golla, Sailaja ;
Weaver, David D. ;
Bird, Lynne M. ;
Friedman, Jennifer ;
Clowes, Virginia ;
Joss, Shelagh ;
Polsler, Laura ;
Campeau, Philippe M. ;
Blazo, Maria ;
Bijlsma, Emilia K. ;
Rosenfeld, Jill A. ;
Beetz, Christian ;
Powis, Zoe ;
McWalter, Kirsty ;
Brandt, Tracy ;
Torti, Erin ;
Mathot, Mikael ;
Mohammad, Shekeeb S. ;
Armstrong, Ruth ;
Kalscheuer, Vera M.
作者单位:
Sch Med & Biomed Sci,Univ Porto
[1]
Serv Genet Med,CHU Bordeaux
[2]
Child Neurol & Neurodev Med Thompson Autism Ctr,CHOC Hosp
[3]
Indiana Univ Sch Med
[4]
Rady Childrens Hosp San Diego,Univ Calif San Diego
[5]
North West Thames Reg Genet Serv,London North West Univ Healthcare NHS Trust
[6]
West Scotland Ctr Gen Med,Queen Elizabeth Univ Hosp
[7]
Vrije Univ Brussel VUB,Univ Ziekenhuis Brussel
[8]
CHU St Justine Res Ctr,Univ Montreal
[9]
Div Clin Genet,Texas A&M Univ
[10]
Dept Clin Genet,Leiden Univ Med Ctr
[11]
Mol & Human Genet,Baylor Coll Med
[12]
Centogene GmbH
[13]
Clin Genom,Ambry Genet
[14]
GeneDx LLC
[15]
Neuropediat Unit,CHU UCL Namur
[16]
Sydney Childrens Hosp Network,Childrens Hosp Westmead
[17]
Addenbrookes Treatment Ctr,Addenbrookes Hosp
[18]
Grp Dev & Dis,Max Planck Inst Mol Genet
[19]
Ctr Clin Genet,Sydney Childrens Hosp Network
[20]
Consiglio Nazionale delle Ricerche (CNR),CNR
[21]
University of New South Wales Sydney,Univ New South Wales
[22]
Gilbert & Rose Marie Chagoury Sch Med,Lebanese Amer Univ
[23]
Serv Genet Med,Nantes Univ
[24]
Ctr Genom Med,King Faisal Specialist Hosp & Res Ctr
[25]
Dept Neurosci,King Faisal Specialist Hosp & Res Ctr
[26]
VIB Ctr Mol Neurol,VIB
[27]
Dept Child Neurol & Metab,Ghent Univ Hosp
[28]
Antwerp Univ Hosp,Univ Antwerp
[29]
Max Planck Society,Max Planck Inst Mol Genet
[30]
Serv Genet Clin,Ctr Hosp Reg Univ Tours
[31]
Genet Ctr,Akron Childrens Hosp
[32]
Ctr Med Genet,Univ Antwerp
[33]
Dept Pediat Neurol,Univ Antwerp
[34]
Inst Human Genet,Heidelberg Univ
[35]
Inst Med Genet & Appl Genom,Univ Tubingen
[36]
Dept Clin Genet,Great Ormond St Hosp Sick Children
[37]
Dev Neurosci,UCL Great Ormond St Inst Child Hlth
[38]
Wessex Clin Genet Serv,Princess Anne Hosp
[39]
Genet Serv WA,King Edward Mem Hosp
[40]
Dept Neurosci,Washington Univ
[41]
Div Clin & Metab Genet,Hosp Sick Children
[42]
Genet Learning Disabil Serv
[43]
Dept Pathol & Lab Med,Childrens Mercy Hosp & Clin
[44]
Div Clin Genet,Childrens Mercy Hosp & Clin
[45]
Inst Genet Med Alsace IGMA,Hop Univ Strasbourg
[46]
Serv Pediat,Hop Univ Strasbourg
[47]
Northern Ireland Reg Genet Serv
[48]
Dept Med Genet,Haukeland Hosp
[49]
Fac Biol Med & Hlth,Univ Manchester
[50]
Ctr Populat Genom,Murdoch Childrens Res Inst
[51]
Dept Neurol,Columbia Univ
[52]
Texas Tech Hlth Sci Ctr Lubbock
[53]
Texas Sports Psychiat & Integrat Hlth
[54]
Ctr Genet Humaine,Inst Pathol & Genet ASBL
[55]
Dept Med Genom Genet Med,Royal Prince Alfred Hosp
[56]
Dept Genet,Childrens Hosp Eastern Ontario
[57]
Dept Pediat,San Antonio Mil Med Ctr
[58]
Dept Human Genet,Radboud Univ Nijmegen Med Ctr
[59]
Residential Care Setting,Pluryn
[60]
Ctr Genet Med Jacinto Magalhaes,Ctr Hosp Univ Porto
[61]
Hillcrest Internal Med
[62]
发布时间
2023-09-09
- 浏览0
Molecular psychiatry
Molecular psychiatry
668-697页
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