(Last updated : 2023-07-26 21:17:31)
  大友 真理
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Associate Professor
■ Books
1. Chapter contribution  Down syndrome「今日の神経疾患治療指針」 2013/03/15
2. Chapter contribution  Turner syndrome「今日の神経疾患治療指針」 2013/03/15
■ Published papers
1. Original article  Epidemiological investigation of spinal muscular atrophy in Japan. 2022/01
2. Case report  A Case of BRAF-V600E Mutation-positive Metachronous Secondary
Lung Cancer Detected by Bone Metastatic Lesion 2020/04
3. Original article  Diagnosis and Genetic Counseling for Mitochondrial Disease
at the Institute of Medical Genetics, Tokyo Women's Medical University 2018/08
4. Original article  Change of minds in pregnant women and their partners during NIPT genetic counseling 2017/10
5. Original article  The Spectrum of ZEB2 Mutations Causing the Mowat-Wilson Syndrome in Japanese Populations 2014/04
Display all(8)
■ Academic conference presentation
1. Results of comprehensive genomic profiling tests for pancreaticobiliary cancer at our university’s hospital  2023/03/18
2. A case of 9p tetrasomy presenting with feeding difficulties due to early satiation  2021/04/16
3. Progeroid syndrome with focal segmental glomeruloscrelosis due to ZMPSTE24 mutations  2019/06/16
■ Education
1. 1996/04~2000/03 〔Doctoral course〕, Tokyo Women's Medical University, Completed,
2. 1990/04~1996/03 Faculty of Medicine, Tokyo Women's Medical University, Graduated,