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

MFSD8-Related CLN7 Disease with Adult-Onset Cerebellar Ataxia: A Five-Patient Case Series

MFSD8相关CLN7疾病伴成人起病型小脑共济失调:5例患者病例系列

Sharma, Pooja; Agarwal, Ayush; De, Tiyasha; Handique, Jupita; Kashyap, Kriti; Garg, Divyani; Garg, Ajay; Reza, Shahrumi; Sonakar, Akhilesh Kumar; Srivastava, Achal K; Faruq, Mohammed

Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients

线粒体DNA单倍群与脊髓小脑性共济失调2型发病年龄:一项针对印度患者的研究

Sonakar, Akhilesh Kumar; Sharma, Chhavi; Reza, Shahrumi; Pandey, Shivam; Srivastava, M V Padma; Srivastava, Achal K; Faruq, Mohammed

De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations

同胞中出现新生变异:两种不相关的致病突变罕见同时发生

Garg, Divyani; Joy, Shiny; De, Tiyasha; Reza, Shahrumi; Agarwal, Ayush; Sharma, Pooja; Handique, Jupita; Garg, Ajay; Srivastava, Achal Kumar; Faruq, Mohammed

Genetic Landscape of Dystonia in Asian Indians

印度裔人群肌张力障碍的遗传图谱

Saini, Arti; Singh, Inder; Kumar, Mukesh; Radhakrishnan, Divya Madathiparambil; Agarwal, Ayush; Garg, Divyani; Elavarasi, Arunmozhimaran; Singh, Rahul; Chouhan, Vivek; Sandeep; Gupta, Anu; Vishnu, Venugopalan Yamuna; Singh, Mamta Bhushan; Bhatia, Rohit; Garg, Ajay; Gupta, Neerja; Mir, Riyaz Ahmad; Faruq, Mohammed; Binukumar, Balachandran Krishnamma; Srivastava, Achal Kumar; Rajan, Roopa

Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience

肾上腺脑白质营养不良的临床、生化和分子谱:单中心经验

Kumar, Somesh; Bothra, Meenakshi; Choudhary, Neha; Faruq, Mohammed; Suravajhala, Renuka; Jetly, Sunita; Kumar Polipalli, Sunil; Kumar, Arun; Uppal, Komal; Suravajhala, Prashanth; Saran, Ravindra K; Kabra, Madhulika; Kapoor, Seema

Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family

印度某家族连续三代出现齿状核红核苍白球路易体萎缩症(DRPLA),且具有遗传早现现象

Kaur, Ranjot; Agarwal, Ayush; Garg, Divyani; Shankar, Ashvarya; Sharma, Pooja; De, Tiyasha; Wasiq, Mohammed; Rajan, Roopa; Garg, Ajay; Faruq, Mohammed; Srivastava, Achal K

Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia

进行性共济失调中常见突变基因的诊断率和遗传负荷分析

Sharma, Pooja; Handique, Jupita; Kashyap, Kriti; Sonakar, Akhilesh K; Srivastava, Achal K; Faruq, Mohammed

Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand

东贾坎德邦血红蛋白病突变分析

Shambhavi; Ojha, Umesh Kumar; Fatima, Mahino; Manisha, Rani; Faruq, Mohammed; Kumar, Vivek

NF-κB signaling is the major inflammatory pathway for inducing insulin resistance

NF-κB信号通路是诱导胰岛素抵抗的主要炎症通路。

Mobeen, Ahmed; Joshi, Sweta; Fatima, Firdaus; Bhargav, Anasuya; Arif, Yusra; Faruq, Mohammed; Ramachandran, Srinivasan

STRIDE-DB: a comprehensive database for exploration of instability and phenotypic relevance of short tandem repeats in the human genome

STRIDE-DB:一个用于探索人类基因组中短串联重复序列的不稳定性及其表型相关性的综合数据库

Uppili, Bharathram; Faruq, Mohammed