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

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements

GOT2 缺乏症的全面基因型、表型和生化特征分析:一种伴有癫痫和异常运动的进行性神经发育障碍

German, Hannah M; Zaki, Maha S; Usmani, Muhammad A; Karagoz, Irem; Efthymiou, Stephanie; Abdel-Hamid, Mohamed S; Arabiyat, Haya Abdelhafez; Ghaffar, Amama; Shahzad, Mohsin; van Bokhoven, Hans; Ahmed, Zubair M; Yaghini, Omid; Hosseini, Neda; Majidinezhad, Maede; Alavi, Shahryar; Bosma, Marjolein; Broeks, Melissa H; Türkdoğan, Dilşad; Suri, Mohnish; Laura de Godoy, Laiz; Verhoeven-Duif, Nanda M; Riazuddin, Sheikh; Gleeson, Joseph G; Alves, Cesar; Jans, Judith J M; Riazuddin, Saima; Houlden, Henry; Maroofian, Reza

Tuning diffusion coefficient, ionic conductivity, and transference number in rGO/BaCoO(3) electrode material for optimized supercapacitor energy storage

通过调控rGO/BaCoO(3)电极材料的扩散系数、离子电导率和迁移数,优化超级电容器的储能性能

Shahzad, Mohsin; Ahmad, Farooq; Ibraheem, M; Shakoor, Abdul; Ramay, Shahid M; Raza, M Rafi; Atiq, Shahid

A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred

巴基斯坦某家族中HACE1基因错义变异与智力障碍、癫痫、痉挛和精神运动障碍相关

Usmani, Muhammad A; Ghaffar, Amama; Shahzad, Mohsin; Akram, Javed; Majeed, Aisha I; Malik, Kausar; Fatima, Khushbakht; Khan, Asma A; Ahmed, Zubair M; Riazuddin, Sheikh; Riazuddin, Saima

A Machine-Learning-Based Robust Classification Method for PV Panel Faults

基于机器学习的光伏组件故障鲁棒分类方法

Memon, Sufyan Ali; Javed, Qaiser; Kim, Wan-Gu; Mahmood, Zahid; Khan, Uzair; Shahzad, Mohsin

Genome sequencing and analysis of genomic diversity in the locally transmitted SARS-CoV-2 in Pakistan

巴基斯坦本地传播的SARS-CoV-2病毒基因组测序及基因组多样性分析

Shakeel, Muhammad; Irfan, Muhammad; Nisa, Zaib Un; Farooq, Saba; Ain, Noor Ul; Iqbal, Waseem; Kakar, Niamatullah; Jahan, Shah; Shahzad, Mohsin; Siddiqi, Saima; Khan, Ishtiaq Ahmad

Isolation of phytochemicals from Malva neglecta Wallr and their quantum chemical, molecular docking exploration as active drugs against COVID-19

从锦葵(Malva neglecta Wallr)中分离植物化学物质,并利用量子化学和分子对接技术探索其作为抗COVID-19活性药物的可能性

Xu, Dong; Qiao, Tao; Wang, Yue; Wang, Qiang-Song; Cui, Yuan-Lu; Irfan, Ahmad; Imran, Muhammad; Khalid, Noreen; Hussain, Riaz; Basra, Muhammad Asim Raza; Khaliq, Tanwir; Shahzad, Mohsin; Hussien, Mohamed; Shah, Asma Tufail; Qayyum, Muhammad Abdul; Al-Sehemi, Abdullah G; Assiri, Mohammed A

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

AP1G1基因的新生突变和双等位基因变异会导致神经发育障碍,表现为发育迟缓、智力障碍和癫痫。

Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima

Genetic Causes of Oculocutaneous Albinism in Pakistani Population

巴基斯坦人群眼皮肤白化病的遗传原因

Sajid, Zureesha; Yousaf, Sairah; Waryah, Yar M; Mughal, Tauqeer A; Kausar, Tasleem; Shahzad, Mohsin; Rao, Ali R; Abbasi, Ansar A; Shaikh, Rehan S; Waryah, Ali M; Riazuddin, Saima; Ahmed, Zubair M

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss

在家族性语前听力损失病例中发现CLPP、LARS2、CDH23和COL4A5的新突变

Zafar, Saba; Shahzad, Mohsin; Ishaq, Rafaqat; Yousaf, Ayesha; Shaikh, Rehan S; Akram, Javed; Ahmed, Zubair M; Riazuddin, Saima

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

巴基斯坦近亲结婚家庭通过分离听力损失病例,为全球遗传学研究提供了重要见解。

Richard, Elodie M; Santos-Cortez, Regie Lyn P; Faridi, Rabia; Rehman, Atteeq U; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J; Nickerson, Deborah A; Schrauwen, Isabelle; Khan, Shaheen N; Morell, Robert J; Zafar, Saba; Ansar, Muhammad; Ahmed, Zubair M; Ahmad, Wasim; Riazuddin, Sheikh; Friedman, Thomas B; Leal, Suzanne M; Riazuddin, Saima