换一批
换一批De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
作者：
Reijnders, Margot R. F. [1]
;
Zachariadis, Vasilios [2]
;
Latour, Brooke [3]
;
Jolly, Lachlan [4]
;
Mancini, Grazia M. [5]
;
Pfundt, Rolph [6]
;
Wu, Ka Man [7]
;
van Ravenswaaij-Arts, Conny M. A. [8]
;
Veenstra-Knol, Hermine E. [9]
;
Anderlid, Britt-Marie M. [10]
;
Wood, Stephen A. [11]
;
Cheung, Sau Wai [12]
;
Barnicoat, Angela [13]
;
Probst, Frank [14]
;
Magoulas, Pilar [15]
;
Brooks, Alice S. [16]
;
Malmgren, Helena [17]
;
Harila-Saari, Arja [18]
;
Marcelis, Carlo M. ;
Vreeburg, Maaike ;
Hobson, Emma ;
Sutton, V. Reid ;
Stark, Zornitza ;
Vogt, Julie ;
Cooper, Nicola ;
Lim, Jiin Ying ;
Price, Sue ;
Lai, Angeline Hwei Meeng ;
Domingo, Deepti ;
Reversade, Bruno ;
Gecz, Jozef ;
Gilissen, Christian ;
Brunner, Han G. ;
Kini, Usha ;
Roepman, Ronald ;
Nordgren, Ann ;
Kleefstra, Tjitske
作者单位：
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
[1]
Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden
[2]
KK Womens & Childrens Hosp, Singapore 229899, Singapore
[3]
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[4]
Birmingham Womens Hosp, Clin Genet Unit, West Midlands Reg Genet Serv, Birmingham B15 2TG, W
[5]
Univ Adelaide, Sch Biol Sci, Adelaide, SA 5000, Australia
[6]
Great Ormond St Hosp Children NHS Fdn Trust, London WC1N 3JH, England
[7]
Oxford Univ Hosp NHS Fdn Trust, Dept Clin Genet, Oxford OX3 7LE, England
[8]
Karolinska Univ Hosp, Dept Womens & Childrens Hlth, S-17176 Stockholm, Sweden
[9]
Birmingham Womens NHS Fdn Trust, Clin Genet Unit, Mindelsohn Way, Birmingham B15 2G, W Midlands
[10]
Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands
[11]
Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic 3052, Australia
[12]
Chapel Allerton Hosp, Dept Clin Genet, Leeds LS7 4SA, W Yorkshire, England
[13]
Sophia Childrens Univ Hosp, Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands
[14]
Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA
[15]
Griffith Univ, Eskitis Inst Drug Discovery, Brisbane, Qld 4111, Australia
[16]
ASTAR, Inst Med Biol, Singapore 138648, Singapore
[17]
Univ Adelaide, Neurogenet, Sch Med, Adelaide, SA 5005, Australia
[18]
发布时间
2017-04-05
- 浏览3
The American Journal of Human Genetics
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