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

Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India

经济高效的全外显子组测序在印度查谟和克什米尔邦的一个家族中发现了导致1型神经纤维瘤病的致病变异

Spolia, Akshi; Angural, Arshia; Sharma, Varun; Shipra; Razdan, Sushil; Dhar, Manoj K; Mahajan, Ankit; Verma, Vijeshwar; Pandita, Kamal K; Sharma, Swarkar; Rai, Ekta

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India

综述:了解印度查谟和克什米尔等资源匮乏地区的罕见遗传疾病

Angural, Arshia; Spolia, Akshi; Mahajan, Ankit; Verma, Vijeshwar; Sharma, Ankush; Kumar, Parvinder; Dhar, Manoj Kumar; Pandita, Kamal Kishore; Rai, Ekta; Sharma, Swarkar

A hydrolase with esterase activity expressed from a fosmid gene bank prepared from DNA of a North West Himalayan glacier frozen soil sample

从西北喜马拉雅冰川冻土样本的DNA构建的fosmid基因库中表达的具有酯酶活性的水解酶

Gupta, Verruchi; Singh, Inderpal; Kumar, Paramdeep; Rasool, Shafaq; Verma, Vijeshwar

Production and purification of an alkaline lipase from Bacillus sp. for enantioselective resolution of (±)-Ketoprofen butyl ester

从芽孢杆菌属中生产和纯化碱性脂肪酶,用于(±)-酮洛芬丁酯的对映选择性拆分

Saraswat, Rashmi; Bhushan, Indu; Gupta, Pankaj; Kumar, Vivek; Verma, Vijeshwar

A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India

PANK2 基因变异导致印度查谟和克什米尔地区的一个家庭发生泛酸激酶相关神经退行性疾病

Arshia Angural, Inderpal Singh, Ankit Mahajan, Pranav Pandoh, Manoj K Dhar, Sanjana Kaul, Vijeshwar Verma, Ekta Rai, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma