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

Reversible Magneto-ionic Modification of Metallic Magnetic Thin Films

金属磁性薄膜的可逆磁离子改性

Hafiz, Md Golam; Vasili, Hari Babu; Shepley, Philippa; Ali, Mannan; Britton, Andrew J; Cespedes, Oscar; Li, Weibin; Valvidares, Manuel; Pachat, Rohit; Fotso, Wilfried; Cherif, Mourad; Ono, Shimpei; Roussigne, Yves; Belmeguenai, Mohamed; Burnell, Gavin

Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective

反向表型分析:从内分泌角度探讨难治性癫痫

Sherin, Shijiya; Soodhana, Dhanya; Mohanlal, Smilu; Pachat, Divya

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

编码剪接体蛋白的WBP4基因的双等位基因功能缺失变异会导致不同的神经发育综合征。

Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Chan Jeong, Won; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar

Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies

基于基因组的疗法:遗传性癫痫和癫痫性脑病精准医疗时代

Balaji, Aarthi; Mohanlal, Smilu; Pachat, Divya; Babu, Sachin Suresh; Kumar, Ek Suresh; Mamukoya, Najiya; Das, Syama

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

WBP4基因(编码剪接体蛋白)的双等位基因功能缺失变异会导致不同程度的神经发育迟缓综合征。

Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Mor, Evyatar; Tzvi, Naama; Elefant, Naama; Zaki, Maha S; Gleeson, Joseph G; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Elpeleg, Orly; Gordon, Chris; Harel, Tamar; Õunap, Katrin; Salton, Maayan; Mor-Shaked, Hagar

Nasu-Hakola Disease - A Rare Type of Presenile Dementia

Nasu-Hakola 病 - 一种罕见的早老性痴呆

Krishnadas, N C; Abdulla, Mansoor C; Pachat, Divya

Variable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series

儿童交替性偏瘫的表型变异:基因证实的病例系列

Mohanlal, Smilu; Babu, Sachin Suresh; Pachat, Divya

Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease

通过对印度一家患有冯·希佩尔-林道病的家族进行广泛的计算机分析,对新型生殖系 VHL 突变进行分子表征

Gautham Arunachal, Divya Pachat, C George Priya Doss, Sumita Danda, Rekha Pai, Andrew Ebenazer