(Last updated : 2020-03-30 12:48:40)
  Masuno Mitsuo
   Department     ,
   Position  
■ BooK
1. 2013/01   Down syndrome (trisomy 21 syndrome)「今日の治療指針 2013版」 
■ Journal
1. 2019/10/21 Novel USP9X variants in two patients with X-linked intellectual disability. 
2. 2019/08/08 Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
3. 2015/02 Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features 
4. 2014/06 De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity. 
5. 2013/09 Pure duplication of 19p13.3. 
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■ Presentation
1. 2018/10/19 Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability.  
2. 2017/10/20 TMEPAI mutation causes MFS/LDS-like phenotypes in 2 Japanese families.  
3. 2016/04/04 Clinical and neuroimaging findings of an incomplete form of Moebius syndrome  
4. 2015/06/12 Brain imaging analysis in Moebius syndrome  
5. 2013/06/21 Genetic counseling documentation by FileMaker Pro 11  
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■ Belonging society
1. The European Society of Human Genetics