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

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

印度人群共济失调的遗传学:来自常用基因筛查工具的综合见解

Sharma Pooja, Sonakar Akhilesh Kumar, Tyagi Nishu, Suroliya Varun, Kumar Manish, Kutum Rintu, Asokchandran Vivekananda, Ambawat Sakshi, Shamim Uzma, Anand Avni, Ahmad Ishtaq, Shakya Sunil, Uppili Bharathram, Mathur Aradhana, Parveen Shaista, Jain Shweta, Singh Jyotsna, Seth Malika, Zahra Sana, Joshi Aditi, Goel Divya, Sahni Shweta, Kamai Asangla, Wadhwa Saruchi, Murali Aparna, Saifi Sheeba, Chowdhury Debashish, Pandey Sanjay, Anand Kuljeet Singh, Narasimhan Ranganathan Lakshmi, Laskar Sanghamitra, Kushwaha Suman, Kumar Mukesh, Shaji Cheruvallill Velayudhan, Srivastava Madakasira Vasantha Padma, Srivastava Achal K, Faruq Mohammed

Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene

对印度南部某社区患有常染色体显性遗传性皮质震颤、肌阵挛和癫痫的患者进行基因组分析表明,SAMD12基因中存在创始人重复序列扩增突变。

Mahadevan, Radha; Bhoyar, Rahul C; Viswanathan, Natarajan; Rajagopal, Raskin Erusan; Essaki, Bobby; Suroliya, Varun; Chelladurai, Rachel; Sankaralingam, Saravanan; Shanmugam, Ganesan; Vayanakkan, Sriramakrishnan; Shamim, Uzma; Mathur, Aradhana; Jain, Abhinav; Imran, Mohamed; Faruq, Mohammed; Scaria, Vinod; Sivasubbu, Sridhar; Kalyanaraman, Shantaraman