日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing

印度少数单亲家族中男性自闭症谱系障碍的遗传学见解:全外显子组测序结果

Durbagula, Srividhya; Parambath, Snijesh Valiya; Siddappa Niranjana Murthy, Ashitha; Rameshraju K, Meghana; Ghati Kasturirangan, Chetan; Udupi, Gautham Arunachal; Ramachandra, Nallur B; Huligerepura Sosalegowda, Aparna; Raman, Vijaya; Korlimarla, Aruna; Gowda, Naveen Kumar Chandappa

Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome

对一个印度裔多重家族进行全外显子组测序,发现患有自闭症和史密斯-马吉尼斯综合征的兄弟姐妹中,17p11.2 区域内的 RAI1 和 FLII 基因存在变异。

Srividhya, Durbagula; Parambath, Snijesh Valiya; Sathyanarayanan, Ranganayaki; Huligerepura Sosalegowda, Aparna; Korlimarla, Aruna; Niranjana Murthy, Ashitha S; Prabhakaran, Nishanth; Vijayanand, Meghana; Gowda, Naveen Kumar Chandappa