(Last updated : 2022-08-12 13:09:51)
  Shimojima Keiko
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Assistant Professor
■ Published papers
1. Original article  Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review 2022/08 Link
2. Original article  Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis 2022/01/12 Link
3. Case report  Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures 2021/11/29 Link
4. Original article  HECW2-related disorder in four Japanese patients 2021/10 Link
5. Case report  Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease 2021/04/01 Link
Display all(139)
■ Academic conference presentation
1. Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated  2022/06/04
2. Two patients with 10q22.3 microdeletions containing Young-Simpson syndrome gene KAT6B  2022/06/04
3. A neurodevelopmental female with a 22q13.2 microdeletion containing TCF20  2022/06/03
4. Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan.  2021/12
5. Analysis of chromosome structural variations using long-read sequencing  2020/08/19
Display all(26)
■ Research areas
Embryonic medicine and pediatrics, Medical biochemistry 
■ Academic society memberships
1. 2008/05~ American Society of Human Genetics
2. 2007/04~ The Japan Society of Human Neurology
3. 2006/12~ The Japan Socitey of Human Genetics
4. 2002/05~ Japan Pediatric Society
■ Education
1. 2012/05
Degree Acquisition
Yokohama City University,
2. 1996/04~2002/03 Faculty of Medicine, Shinshu University, Graduated,