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

A programmed decline in ribosome levels governs human early neurodevelopment

核糖体水平的程序性下降控制着人类早期神经发育。

Chunyang Ni # ,Yudong Wei # ,Barbara Vona # ,Dayea Park ,Yulei Wei ,Daniel A Schmitz ,Yi Ding ,Masahiro Sakurai ,Emily Ballard ,Leijie Li ,Yan Liu ,Ashwani Kumar ,Chao Xing ,Shenlu Qin ,Sangin Kim ,Martina Foglizzo ,Jianchao Zhao ,Hyung-Goo Kim ,Cumhur Ekmekci ,Ehsan Ghayoor Karimiani ,Shima Imannezhad ,Fatemeh Eghbal ,Reza Shervin Badv ,Eva Maria Christina Schwaibold ,Mohammadreza Dehghani ,Mohammad Yahya Vahidi Mehrjardi ,Zahra Metanat ,Hosein Eslamiyeh ,Ebtissal Khouj ,Saleh Mohammed Nasser Alhajj ,Aziza Chedrawi ,Khushnooda Ramzan ,Jamil A Hashmi ,Majed M Alluqmani ,Sulman Basit ,Danai Veltra ,Nikolaos M Marinakis ,Georgios Niotakis ,Pelagia Vorgia ,Christalena Sofocleous ,Hane Lee ,Won Chan Jeong ,Muhammad Umair ,Muhammad Bilal ,César Augusto Pinheiro Ferreira Alves ,Matthew Sieber ,Michael Kruer ,Henry Houlden ,Fowzan S Alkuraya ,Elton Zeqiraj ,Roger A Greenberg ,Can Cenik ,Leqian Yu ,Reza Maroofian ,Jun Wu ,Michael Buszczak

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia

外显子组序列分析用于鉴定未确诊的家族性运动障碍和肌张力障碍

Ahmad M Almatrafi, Abdulfatah M Alayoubi, Majed Alluqmani, Jamil A Hashmi, Sulman Basit

Integrated Genomic Analysis Identifies ANKRD36 Gene as a Novel and Common Biomarker of Disease Progression in Chronic Myeloid Leukemia

综合基因组分析确定 ANKRD36 基因是慢性粒细胞白血病疾病进展的新型常见生物标志物

Zafar Iqbal, Muhammad Absar, Tanveer Akhtar, Aamer Aleem, Abid Jameel, Sulman Basit, Anhar Ullah, Sibtain Afzal, Khushnooda Ramzan, Mahmood Rasool, Sajjad Karim, Zeenat Mirza, Mudassar Iqbal, Maryam AlMajed, Buthinah AlShehab, Sarah AlMukhaylid, Nouf AlMutairi, Nawaf Al-Anazi, Muhammad Farooq Sabar,

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

巴基斯坦一家患有 X 连锁隐性鱼鳞病的 STS 基因出现新的无义突变:包括两名纯合女性患者的罕见病例

Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar

Kleine-Levin syndrome is associated with LMOD3 variants

Kleine-Levin 综合征与 LMOD3 变异有关

Saad M Al Shareef, Sulman Basit, Sha Li, Corinne Pfister, Sylvain Pradervand, Michel Lecendreux, Geert Mayer, Yves Dauvilliers, Vincenzo Salpietro, Henry Houlden, Ahmed S BaHammam, Mehdi Tafti

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

CIB2 钙和整合素结合蛋白的改变导致 Usher 综合征 1J 型和非综合征性耳聋 DFNB48

Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, Kwanghyuk Lee, Artur A Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P Sinha, Sue Lee, David Terrell, Rashmi S Hegde, Rana A Ali, Saima Anwar, Paula B Andrade-Elizondo, Asli Sirmaci, Leslie V Parise, Sulman Basit, Abdul Wali, Muh