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

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine

印度建立溶酶体贮积症国家生物样本库——迈向研究和精准医疗的一步

Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Datar, Chaitanya; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Prabha, C Ratna; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C; Iyer, Anand; Bijarnia-Mahay, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Kabra, Madhulika; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Sheth, Frenny; Sheth, Harsh

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia

248名印度骨骼发育不良患者的遗传和等位基因异质性

Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S J; Soni, J P; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V; Kamath, Nutan; Shenoy, Rathika D; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India

罕见遗传疾病的产前诊断:印度一家三级遗传中心十四年的经验

Sheth, Jayesh; Dhondekar, Tejasvi; Ajagekar, Manali; Datar, Chaitanya; Kher, Archana; Trivedi, Jigish; Thakkar, Swati; Gandhi, Ajit; Soni, Meenakshi; Chaudhary, Mayank; Banker, Manish; Jalan, Anil; Muranjan, Mamta; Munshi, Sujal; Munshi, Ami; Pandya, Mili; Shah, Jhanvi; Nair, Aadhira; Bhavsar, Riddhi; Sheth, Frenny; Sheth, Harsh

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

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report

红细胞丙酮酸激酶缺乏症伴高甘油三酯血症:病例报告

Hinge, Dinesh V; Muranjan, Mamta; Taksande, Amar; Hampe, Priyanka

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

104个印度中枢神经系统白质异常家族的临床和遗传谱

Kaur, Parneet; do Rosario, Michelle C; Hebbar, Malavika; Sharma, Suvasini; Kausthubham, Neethukrishna; Nair, Karthik; A, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie Edward S; Nampoothiri, Sheela; Patil, Siddaramappa J; Suresh, Narayanaswami; Bijarnia Mahay, Sunita; Dua Puri, Ratna; Pai, Shivanand; Kaur, Anupriya; Kc, Rakshith; Kamath, Nutan; Bajaj, Shruti; Kumble, Ali; Shetty, Rajesh; Shenoy, Rathika; Kamate, Mahesh; Shah, Hitesh; Muranjan, Mamta N; Bl, Yatheesha; Avabratha, K Shreedhara; Subramaniam, Girish; Kadavigere, Rajagopal; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

法伯病的新表现形式模拟神经病变型戈谢病

Mhatre, Shweta; Muranjan, Mamta; Karande, Sunil; Balaji, Harish

Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1

印度戊二酸尿症1型患者的临床特征、分子谱和预后

Tamhankar, Parag M; Vasudevan, Lakshmi; Kondurkar, Pratima; Niazi, Sarfaraj; Christopher, Rita; Solanki, Dhaval; Dholakia, Pooja; Muranjan, Mamta; Kamate, Mahesh; Kalane, Umesh; Sheth, Jayesh; Tamhankar, Vasundhara; Gulati, Reena; Vasikarla, Madhavi; Danda, Sumita; Naushad, Shaik M; Girisha, Katta M; Patil, Shekhar

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

戈谢病:对100名印度患者进行单基因分子特征分析,揭示了新的变异和最常见的突变

Sheth, Jayesh; Bhavsar, Riddhi; Mistri, Mehul; Pancholi, Dhairya; Bavdekar, Ashish; Dalal, Ashwin; Ranganath, Prajnya; Girisha, Katta M; Shukla, Anju; Phadke, Shubha; Puri, Ratna; Panigrahi, Inusha; Kaur, Anupriya; Muranjan, Mamta; Goyal, Manisha; Ramadevi, Radha; Shah, Raju; Nampoothiri, Sheela; Danda, Sumita; Datar, Chaitanya; Kapoor, Seema; Bhatwadekar, Seema; Sheth, Frenny

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

尼曼-匹克C型病伴NPC2基因突变的肺部表现:病例报告及文献综述

Sheth, Jayesh; Joseph, Jijo John; Shah, Krati; Muranjan, Mamta; Mistri, Mehul; Sheth, Frenny