换一批The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
第一作者：
Koolen, David A.
作者：
Koolen, David A. [1]
;
Pfundt, Rolph [2]
;
Linda, Katrin [3]
;
Beunders, Gea [4]
;
Veenstra-Knol, Hermine E. [5]
;
Conta, Jessie H. [6]
;
Fortuna, Ana Maria [7]
;
Gillessen-Kaesbach, Gabriele [8]
;
Dugan, Sarah [9]
;
Halbach, Sara [10]
;
Abdul-Rahman, Omar A. [11]
;
Winesett, Heather M. [12]
;
Chung, Wendy K. [13]
;
Dalton, Marguerite [14]
;
Dimova, Petia S. [15]
;
Mattina, Teresa [16]
;
Prescott, Katrina [17]
;
Zhang, Hui Z. [18]
;
Saal, Howard M. [19]
;
Hehir-Kwa, Jayne Y. [20]
;
Willemsen, Marjolein H. [21]
;
Ockeloen, Charlotte W. [22]
;
Jongmans, Marjolijn C. [23]
;
Van der Aa, Nathalie [24]
;
Failla, Pinella [25]
;
Barone, Concetta [26]
;
Avola, Emanuela [27]
;
Brooks, Alice S. [28]
;
Kant, Sarina G. [29]
;
Gerkes, Erica H. [30]
;
Firth, Helen V. [31]
;
Ounap, Katrin [32]
;
Bird, Lynne M. [33]
;
Masser-Frye, Diane ;
Friedman, Jennifer R. ;
Sokunbi, Modupe A. ;
Dixit, Abhijit ;
Splitt, Miranda ;
Kukolich, Mary K. ;
McGaughran, Julie ;
Coe, Bradley P. ;
Florez, Jesus ;
Kasri, Nael Nadif ;
Brunner, Han G. ;
Thompson, Elizabeth M. ;
Gecz, Jozef ;
Romano, Corrado ;
Eichler, Evan E. ;
de Vries, Bert B. A.
作者单位：
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
[1]
Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Brisbane, Qld, Australia
[2]
Univ Mississippi, Med Ctr, Dept Pediat, Jackson, MS 39216 USA
[3]
Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany
[4]
St Ivan Rilski Univ Hosp, Epilepsy Ctr, Sofia, Bulgaria
[5]
IRCCS Assoc Oasi Maria Santissima, Pediat & Med Genet, Troina, Italy
[6]
Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
[7]
Univ Cambridge, Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England
[8]
Columbia Univ, Dept Pediat & Med, New York, NY USA
[9]
Tartu Univ Hosp, United Labs, Dept Genet, Tartu, Estonia
[10]
Erasmus MC, Sophia Childrens Hosp, Dept Clin Genet, Rotterdam, Netherlands
[11]
Seattle Childrens Hosp, Dept Labs, Seattle, WA USA
[12]
Nacogdoches Pediat, Nacogdoches, TX USA
[13]
Univ Cantabria, Dept Physiol & Pharmacol, Cantabria, Spain
[14]
Cook Childrens Hosp, Clin Genet, Ft Worth, TX USA
[15]
Inst Med Genet, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England
[16]
St Lukes Pediat Associates, Duluth, MN USA
[17]
Univ Adelaide, Womens & Childrens Hosp, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia
[18]
City Hosp Nottingham, Clin Genet, Nottingham, England
[19]
Womens & Childrens Hosp, South Australian Clin Genet Serv, Adelaide, SA, Australia
[20]
Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands
[21]
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
[22]
Univ Catania, Dept Pediat, Med Genet, Catania, Italy
[23]
Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA
[24]
Counties Manukau Dist Hlth Board, South Auckland, New Zealand
[25]
Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[26]
Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
[27]
Yorkshire Reg Genet Serv, Clin Genet, Leeds, W Yorkshire, England
[28]
Childrens Hosp & Clin Minnesota, Dept Genet, Minneapolis, MN USA
[29]
Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands
[30]
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[31]
Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA
[32]
Ctr Hosp Porto, Ctr Genet Med Dr Jacinto Magalhaes, Unidade Genet Med, Oporto, Portugal
[33]
发布时间
2017-04-06
- 浏览1
European journal of human genetics
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