P220: A de novo Xq13.2-13.3 duplication associated with non-syndromic intellectual disability

Ижил төстэй зүйлс

• Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability
  -н: Sepideh Mehvari, зэрэг
  Хэвлэсэн: (2020-10-01)
• Xq12q13.2 duplication detected in a child in selective exome screening
  -н: A. A. Dokshukina, зэрэг
  Хэвлэсэн: (2024-09-01)
• Construction of a YAC contig spanning the Xq13.3 subband.
  -н: Villard, L, зэрэг
  Хэвлэсэн: (1995)
• Difficulty in genetic counseling of an asymptomatic carrier woman with a de novo 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A and recurrent 15q13.2q13.3 microdeletion in the fetus
  -н: Chih-Ping Chen
  Хэвлэсэн: (2025-01-01)
• Prenatal Diagnosis of 17p13.1p13.3 Duplication
  -н: Kirsi Kiiski, зэрэг
  Хэвлэсэн: (2012-01-01)