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

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

Photoluminescence and Stability of 2D Ruddlesden-Popper Halide Perovskites

二维Ruddlesden-Popper卤化物钙钛矿的光致发光和稳定性

Ren, Zhilin; Yuan, Zhengtian; Sergeev, Aleksandr A; Lončarić, Ivor; Ali, Muhammad Umair; Rehman, Atta Ur; Wong, Kam Sing; He, Yanling; Ovčar, Juraj; Popović, Jasminka; Djurišić, Aleksandra B

Sociocultural determinants of health-associated quality of life among Afghan refugees in Pakistan: evidence from a multi-stage cross-sectional study

巴基斯坦阿富汗难民健康相关生活质量的社会文化决定因素:一项多阶段横断面研究的证据

Rehman, Atta Ur; Zakar, Rubeena; Hani, Ume; Fischer, Florian

Epidemiological patterns of cutaneous leishmaniasis in north-west Pakistan (2022-2023)

巴基斯坦西北部皮肤利什曼病流行病学模式(2022-2023)

Uddin, Shahab; Khan, Izharullah; Rehman, Atta Ur; Rahman, Hamid Ur; Hizbullah

Microevolution and phylogenomic study of Respiratory Syncytial Virus type A

呼吸道合胞病毒A型的微进化和系统基因组学研究

Ahmad, Ashfaq; Majaz, Sidra; Saeed, Aamir; Noreen, Shumaila; Abbas, Muhammad; Khan, Bilal; Rahman, Hamid Ur; Nouroz, Faisal; Xie, Yingqiu; Rashid, Abdur; Rehman, Atta Ur

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes

全外显子组测序揭示了巴基斯坦近亲结婚家庭中 CNGA3、CACNA1F 和 RPGRIP1 的致病变异,这些家庭表现出不同的视网膜表型。

Tareen, Jahangir Khan; Khan, Hamid; Ghani, Shamsul; Khan, Saeed; Khan, Bakhtawar; Wu, Yurong; Khan, Muhammad Ajmal; Shah, Syed Shahab Ud Din; Hussain, Abrar; Kiyani, Mubin Mustafa; Bashir, Shahid; Rehman, Atta Ur; Shabbir, Muhammad Imran; Li, Hong-Tao

BRCA1 Exon 11 Mutations in Breast Cancer: A Study From Pakistan.

BRCA1 外显子 11 突变与乳腺癌:来自巴基斯坦的一项研究

Ali Murad, Uddin Aziz, Ghafoor Sajid Ul, Rehman Atta Ur

Strategic approaches to improve equine breeding and stud farm outcomes

改善马匹繁育和种马场成果的战略方法

Khan, Imdad Ullah; Khairullah, Aswin Rafif; Khan, Asfand Yar; Rehman, Atta Ur; Mustofa, Imam

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

巴基斯坦一个家族中发现一种新的纯合DST变异导致遗传性感觉和自主神经病变。

Munir, Asad; Frederiksen, Helen Nabiryo; Ali, Fawad; Shah, Sabawoon; Rashid, Abdur; Oreshkov, Sergey; Khan, Kashif; Shahzeb, Muhammad; Ullah, Inam; Rahman, Hamid Ur; Ullah, Mukhtar; Ansar, Muhammad; Rehman, Atta Ur