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

Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish

进一步阐明导致人类氧化磷酸化缺陷和斑马鱼早期发育异常的MRPS2缺陷

Kandettu, Amoolya; Yeole, Mayuri; Sekar, Hamsini; Garapati, Kishore; Kaur, Namanpreet; Anand, Aakanksha; Hegde, Pranavi; Nair, Karthik; Medishetti, Raghavender; Bhat, Vivekananda; Radhakrishnan, Periyasamy; Mundkur, Suneel C; Shrikiran, Hebbar A; Pandey, Akhilesh; Sevilimedu, Aarti; Chakrabarty, Sanjiban; Shukla, Anju

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome

TOMM7基因中的双等位基因剪接变异c.153-2A>C与莱氏综合征相关

Yeole, Mayuri; Majethia, Purvi; Siddiqui, Shahyan; Girisha, Katta Mohan; Shukla, Anju; Radhakrishnan, Periyasamy; Bhat, Vivekananda

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications

印度142个家庭儿童期癫痫的遗传和表型特征:咨询和治疗意义

Majethia, Purvi; Kaur, Namanpreet; Mascarenhas, Selinda; Rao, Lakshmi Priya; Pande, Shruti; Narayanan, Dhanya Lakshmi; Bhat, Vivekananda; Nayak, Shalini S; Nair, Karthik Vijay; Prasannakumar, Adarsh Pooradan; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Farooqui, Sheeba; Yeole, Mayuri; Kothiwale, Vishaka; Naik, Rohit; Bhat, Veena; Aroor, Shrikiran; Lewis, Leslie; Purkayastha, Jayashree; Bhat, Y Ramesh; Praveen, B K; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Sharma, Suvasini; Shukla, Anju

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

报告在三个互不相关的硫胺素代谢功能障碍综合征5型家族中发现一种新的复发性纯合变异c.620A>T,并进行文献综述

Mascarenhas, Selinda; Yeole, Mayuri; Rao, Lakshmi Priya; do Rosario, Michelle C; Majethia, Purvi; Nair, Karthik Vijay; Sharma, Suvasini; Barala, Praveen Kumar; Puri, Ratna Dua; Pal, Swasti; Siddiqui, Shahyan; Shukla, Anju