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

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Emerging composite electrode architectures based on transition metal oxides for high-performance Li-ion capacitors

基于过渡金属氧化物的新型复合电极结构在高性能锂离子电容器中的应用

Irfan, Muhammad; Shahi, Asma; Bari, Muhammad Ahsaan; Laiba; Atiq, Shahid; Shakoor, Abdul; Sadiq, Imran; Tariq, Ammar; Adnan, Muhammad; Shahzad, Amir; Ansar, Muhammad Tamoor; Haroon, Muhammad Yahya; Saleem, Fatima; Rasheed, Asma; Ahmad, Farooq

Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders

第十二届神经棘红细胞增多症、科恩综合征及其他VPS13相关疾病国际会议论文集

Vacca, Fabrizio; Yalcin, Binnaz; Kaestner, Lars; Danek, Adrian; Peikert, Kevin; Walker, Ruth H; Ansar, Muhammad

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷:一种伴有癫痫的神经发育障碍的机制基础和表型谱

Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza

Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing

利用全外显子组测序技术解析50个巴基斯坦近亲结婚家庭退行性和发育性眼病的遗传基础

Zafar, Ainee; Baig, Ruqia Mehmood; Arshad, Abida; Rashid, Abdur; Oreshkov, Sergey; Frederiksen, Helen Nabiryo; Ansar, Muhammad

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

巴基斯坦大型人群遗传性视网膜疾病的全面遗传图谱

Ullah, Mukhtar; Rehman, Atta Ur; Quinodoz, Mathieu; Rashid, Abdur; Cancellieri, Francesca; Munir, Asad; Kaminska, Karolina; Iqbal, Afia; Javed, Samra; Dawood, Muhammad; Baig, Hafiz Muhammad Azhar; Saleha, Shamim; Naz, Shagufta; Kausar, Humera; Waryah, Ali Muhammad; Superti-Furga, Andrea; Ansar, Muhammad; Rivolta, Carlo

Long-term impact of different prevalent cropping systems on soil physico-chemical characteristics under subtropical climate conditions of Punjab, Pakistan

巴基斯坦旁遮普亚热带气候条件下不同主流种植制度对土壤理化特性的长期影响

Fayyaz, Fahad Ali; Aziz, Irfan; Ansar, Muhammad; Akmal, Muhammad; Alamri, Saud; Alfagham, Alanoud T; Gamrat, Renata; Qayyum, Abdul

Risk Factors for the Development of Early Onset Diabetes in the Population of Sindh Province, Pakistan

巴基斯坦信德省人群早发性糖尿病的危险因素

Abbas, Eraj; Fawwad, Asher; Siddiqui, Iftikhar Ahmed; Afzal, Muhammad Sohail; Ansar, Muhammad; Saqib, Muhammad Arif Nadeem; Shahid, Syed M