换一批A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
第一作者：
Drivas, Theodore G.
作者：
Drivas, Theodore G. [1]
;
Li, Dong [2]
;
Nair, Divya [3]
;
Alaimo, Joseph T. [4]
;
Alders, Marielle [5]
;
Altmueller, Janine [6]
;
Barakat, Tahsin Stefan [7]
;
Bebin, E. Martina [8]
;
Bertsch, Nicole L. [9]
;
Blackburn, Patrick R. [10]
;
Blesson, Alyssa [11]
;
Bouman, Arjan M. [12]
;
Brockmann, Knut [13]
;
Brunelle, Perrine [14]
;
Burmeister, Margit [15]
;
Cooper, Gregory M. [16]
;
Denecke, Jonas [17]
;
Dieux-Coeslier, Anne [18]
;
Dubbs, Holly [19]
;
Ferrer, Alejandro [20]
;
Gal, Danna [21]
;
Bartik, Lauren E. [22]
;
Gunderson, Lauren B. [23]
;
Hasadsri, Linda [24]
;
Jain, Mahim [25]
;
Karimov, Catherine [26]
;
Keena, Beth [27]
;
Klee, Eric W. [28]
;
Kloth, Katja [29]
;
Lace, Baiba [30]
;
Macchiaiolo, Marina [31]
;
Marcadier, Julien L. [32]
;
Milunsky, Jeff M. [33]
;
Napier, Melanie P. [34]
;
Ortiz-Gonzalez, Xilma R. [35]
;
Pichurin, Pavel N. ;
Pinner, Jason ;
Powis, Zoe ;
Prasad, Chitra ;
Radio, Francesca Clementina ;
Rasmussen, Kristen J. ;
Renaud, Deborah L. ;
Rush, Eric T. ;
Saunders, Carol ;
Selcen, Duygu ;
Seman, Ann R. ;
Shinde, Deepali N. ;
Smith, Erica D. ;
Smol, Thomas ;
Blok, Lot Snijders ;
Stoler, Joan M. ;
Tang, Sha ;
Tartaglia, Marco ;
Thompson, Michelle L. ;
van de Kamp, Jiddeke M. ;
Wang, Jingmin ;
Weise, Dagmar ;
Weiss, Karin ;
Woitschach, Rixa ;
Wollnik, Bernd ;
Yan, Huifang ;
Zackai, Elaine H. ;
Zampino, Giuseppe ;
Campeau, Philippe ;
Bhoj, Elizabeth
作者单位：
Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[1]
Univ Missouri, Sch Med, Kansas City, MO 64108 USA
[2]
Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands
[3]
Univ Cologne, Cologne Ctr Genom, Cologne, Germany
[4]
Erasmus MC, Dept Clin Genet, Univ Med Ctr, Rotterdam, Netherlands
[5]
Univ Alabama Birmingham, Birmingham, AL USA
[6]
Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA
[7]
Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA
[8]
Kennedy Krieger Inst, Dept Bone & Osteogenesis Imperfecta, Baltimore, MD 21205 USA
[9]
Univ Med Ctr Gottingen, Pediat & Pediat Neurol, Gottingen, Germany
[10]
Univ Lille, EA RADEME Malad RAres DEv Embryonnaire & MEtab 73, F-59000 Lille, France
[11]
Univ Michigan, Michigan Neurosci Inst, Ann Arbor, MI 48109 USA
[12]
HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA
[13]
Univ Med Ctr Hamburg, Dept Pediat, Eppendorf, Germany
[14]
Childrens Hosp Philadelphia, Dept Pediat, Div Neurol, Philadelphia, PA 19104 USA
[15]
Mayo Clin, Ctr Individualized Med, Rochester, MN USA
[16]
Technion Israel Inst Technol, Ruth & Bruce Rappaport Fac Med, IL-3525433 Haifa, Israel
[17]
Univ Southern Calif, Childrens Hosp Los Angeles, Dept Med Genet, Keck Sch Med, Los Angeles, CA
[18]
Univ Med Ctr Hamburg, Inst Human Genet, Eppendorf, Germany
[19]
CHUQ CHUL, Clin Geneticist Med Genet Dept, Quebec City, PQ, Canada
[20]
Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, IRCCS, I-00146 Rome, Italy
[21]
Alberta Childrens Prov Gen Hosp, Div Med Genet, Calgary, AB, Canada
[22]
Ctr Human Genet, Cambridge, MA USA
[23]
London Hlth Sci Ctr, Dept Pediat, London, ON, Canada
[24]
Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia
[25]
Ambry Genet, Aliso Viejo, CA USA
[26]
Mayo Clin, Dept Neurol, Rochester, MN 55905 USA
[27]
Boston Childrens Hosp, Dept Med, Div Genet & Genom, Boston, MA USA
[28]
Radboud Univ Nijmegen, Human Genet Dept, Med Ctr, Nijmegen, Netherlands
[29]
Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands
[30]
Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China
[31]
Rambam Hlth Care Campus, Genet Inst, IL-3109601 Haifa, Israel
[32]
Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany
[33]
Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli, Ctr Rare Dis & Congenital Defects, IRCCS
[34]
Univ Montreal, Dept Pediat, Med Genet Div, Montreal, PQ, Canada
[35]
发布时间
2022-09-10
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