Published papers
Academic conference presentation
    （Last updated : 2024-02-14 14:19:19）
  中務　秀嗣
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  Department of Pediatrics
   Position   Endowed Assistant Professor
■ Published papers
1. Case report　 A Case Angelman Syndrome Who Suffered Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 2022/02/25
2. Case report　 Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12 Link
3. Original article　 A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 2013/04
■ Academic conference presentation
1. Two infantile patients with pseudohypoaldosteronism assoiated with congenital anomalies of the kidney and urinary tract  2023/04/16
2. A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss  2022/06/04
3. A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome  2022/06/03
4. A case of Chorea as the firstmanifestation of antiphospholipid syndrome  2021/05/29
5. Autopsy findings of Vici syndrome with refractory diarrhea  2021/05/28
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