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

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

DAP3 中的双等位基因变异导致线粒体小亚基组装减少,从而导致细胞凋亡改变和 Perrault 综合征谱表型

Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh-Bergès, Ruth I C Glasgow, Kyle Thompson, Monika Oláhov

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

A unique anatomical variation of the lateral femoral cutaneous nerve arising from the ilioinguinal nerve: illustrative case

髂腹股沟神经起源的股外侧皮神经的一种独特的解剖变异:病例分析

Yeole, Ujwal; Zager, Eric L; Hanna, Amgad S

An In vitro Study Comparing the Survival of Hair Follicles in Various Storage Media at Different Temperatures for Hair Transplant Procedure

一项体外研究比较了不同温度下各种储存介质中毛囊的存活率,以用于毛发移植手术。

Nerkar, Gaurav Madhukar; Waknis, Pushkar P; Kharat, Avinash H; Yeole, Sachin B

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

Enhancing Microsurgery Outcomes Data with High-Quality Synthetic Data Generated Using Artificial Intelligence: A Proof-of-Concept Study

利用人工智能生成的高质量合成数据增强显微外科手术结果数据:概念验证研究

Yeole, Ujwal; Prabhuraj, A R; Arivazhagan, Arimappamagan; Narasingarao, K V L; Vazhayil, Vikas; Bhat, Dhananjaya; Srinivas, Dwarakanath; Govindswamy, Bhanumathi; Sampath, Somanna; Ozmen, Berk B; Schwarz, Graham

Predictors of Remission of Acromegaly following Surgical Treatment in Growth Hormone-Secreting Pituitary Adenoma

生长激素分泌性垂体腺瘤手术治疗后肢端肥大症缓解的预测因素

Konar, Subhas; Yeole, Ujwal; Shukla, Dhaval; Bhat, Dhananjaya I; Sadashiva, Nishanth; Devi, Bhagavatula Indira

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