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

Chest Wall Perforator Flaps in Breast Conservation: Versatile, Affordable, and Scalable: Insights from the Largest Single-Surgeon Audit from India

胸壁穿支皮瓣在乳房保留手术中的应用:用途广泛、经济实惠且易于推广:来自印度最大规模单中心外科医生审计的启示

Koppiker, C B; Mishra, Rupa; Jain, Vaibhav; Sivadasan, Priya; Deshmukh, Chetan; Varghese, Beenu; Dhar, Upendra; Vartak, Anushree; Athavale, Namrata; Gupta, Neerja; Busheri, Laleh; Lulla, Vishesha; Bhandari, Sneha; Joshi, Sneha

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

MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage

iPSCs中MLC1的改变会导致星形胶质细胞谱系出现类似疾病的细胞空泡化表型

Sharma, Saumya; Bharti, Vishal; Das, Prosad Kumar; Rahman, Abdul; Sharma, Harshita; Rauthan, Riya; Rc, Madhumita; Gupta, Neerja; Shukla, Rashmi; Mohanty, Sujata; Kabra, Madhulika; Francis, Kevin R; Chakraborty, Debojyoti

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

骨骼发育不良的手部X线片:图解回顾

S, Dheeksha D; Chandola, Stuti; Jain, Aayush; Gupta, Neerja; Kabra, Madhulika; Jana, Manisha

Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination

同一患者同时患有黄斑角膜营养不良和虹膜眼底缺损:一种独特的组合

Gupta, Noopur; Panigrahi, Arnav; Gupta, Neerja; Sen, Seema

Long-range PCR in next generation sequencing: A low cost approach for large & complex genes

下一代测序中的长片段PCR:一种低成本的大复杂基因测序方法

Chowdhary, Madhumita Roy; Gupta, Neerja

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms

科内莉亚·德·兰格综合征及相关诊断的基因组分析:新的候选基因、基因型-表型相关性和共同机制

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M Jr; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F; Sangha, Karan; Scheuerle, Angela E; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G; White, Susan M; Young, Terri; Loomes, Kathleen M; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D; Izumi, Kosuke; Raible, Sarah E; Krantz, Ian D

Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience

骨骼检查结构化报告对骨骼发育不良的影响:单中心经验

Gupta, Amit; Gupta, Neerja; Kabra, Madhulika; Kaur, Tejinder; Gabra, Pavan; Khan, Maroof A; Jana, Manisha

Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate

新生儿幼年性黄色肉芽肿以双侧前葡萄膜炎为首发症状

Lahri, Brajesh; Hussain, Zakir; Gupta, Neerja; Gupta, Shikha; Singh, Abhishek; Gupta, Viney