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

Transient Neonatal Diabetes Mellitus Potentially Associated With a Novel Homozygous MS4A6A Gene Variant: A Case Report

一例可能与新型纯合MS4A6A基因变异相关的短暂性新生儿糖尿病病例报告

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.101561
Shakeel, Sohrab; Kadam, Sandeep; Pawar, Sameer; Pandya, Dhyey; Kamath, Pragathi; Dawre, Rahul; Sakharkar, Kanchan; Kachare, Abhinav; Chivale, Sangeeta; Sardar, Suvidha; Yamavaram, Abhilash; Mane, Poonam; Gambhir, Prakash; Tamhankar, Parag M; Vaniawala, Salil; Kinikar, Aarti A
糖尿病
多发性硬化症
代谢
发表日期：2026
文献求助 收藏

Vestibular Schwannomas in Pregnancy: A Case Series

妊娠期前庭神经鞘瘤：病例系列

期刊:Journal of Neurological Surgery Part B-Skull Base
影响因子:0.9
doi:10.1055/a-2561-7655
Huang, Jie Lily; Khalid, Hesham; Chessman, Robert; Barnes, Veronica; Martin, Andrew J; Patel, Parag M
神经科学
前庭神经鞘瘤
发表日期：2026
文献求助 收藏

The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex

首例已知的与胎儿脑室扩大、小脑发育不全和多发性关节挛缩相关的OSBPL9基因新型纯合无义变异病例报告

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.80010
Tamhankar, Parag M; Kachhadiya, Tushar; Tamhankar, Vasundhara; Menon, Pramila G; Vaniawala, Shalin; Mithbawkar, Shilpa M
发育与干细胞
神经科学
发表日期：2025
文献求助 收藏

Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case Report

GJA4基因纯合无义变异与胎儿颈项透明层增厚和胎儿静脉导管终止异常相关：病例报告

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.97033
Chauhan, Binodini; Prajapati, Nilamben A; Sagarkar, Sneha; Menon, Pramila; Kachhadiya, Tushar; Vaniawala, Shalin; Vaniawala, Salil; Tamhankar, Vasundhara; Tamhankar, Parag M
发表日期：2025
文献求助 收藏

The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex

首例与胎儿水肿和多发性关节挛缩症相关的NUP214基因纯合共识受体剪接变异病例报告

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.73252
Tamhankar, Vasundhara; Patel, Smit J; Kachhadiya, Tushar; Vaniawala, Shalin; Patel, Jayeshkumar; Bhammar, Rajesh; Patel, Shwetal; Vaniawala, Salil; Menon, Pramila; Tamhankar, Parag M
信号转导
发表日期：2024
文献求助 收藏

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report

纤连蛋白-1基因变异p.Gly1754Ser与韦尔-马尔凯萨尼综合征2型相关：病例报告

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.69448
Tamhankar, Parag M; Menon, Pramila; Mane, Shailaja V; Muthu Kumar, Aarthi
发表日期：2024
文献求助 收藏

A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy

威廉姆斯综合征与 𝘛𝘕𝘒2 基因相关癫痫的罕见共病

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.70777
Angel, Sumathi; Naga Jyothi, Badiginchala; Prakash Ravikumar, Chinthalapalli; Tamhankar, Parag M
癫痫
神经科学
发表日期：2024
文献求助 收藏

A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation (WAGR) Syndrome

染色体微阵列检测发现11p14.3-p12染色体位点的微缺失，导致肾母细胞瘤、无虹膜症、泌尿生殖系统异常和智力低下（WAGR）综合征

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.72479
Majjigudda, Renuka A; Menon, Pramila; Gupte, Supriya; Dikshit, Vishesh; Kulkarni, Vishwanath; Mane, Shailaja; Tamhankar, Parag M
细胞生物学
发表日期：2024
文献求助 收藏

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

期刊:Journal of Pediatric Genetics
影响因子:0.4
doi:10.1055/s-0040-1715528
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
发表日期：2021
文献求助 收藏

Retained anterior capsule: A masquerader of Descemet's membrane detachment

前囊残留：与后弹力层脱离的混淆

期刊:Indian Journal of Ophthalmology
影响因子:1.8
doi:10.4103/ijo.IJO_784_20
Sarkar, Prathama; Gandhi, Harish C; Gupta, Mohit K; Tembhurde, Parag M
发表日期：2020
文献求助 收藏