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

Role of interleukins in the pathogenesis of coronary heart disease: A literature review

白细胞介素在冠心病发病机制中的作用:文献综述

Rafaqat, Saira; Azam, Azeem; Hafeez, Ramsha; Faseeh, Hamza; Tariq, Maria; Asif, Muhammad; Arshad, Amber; Noshair, Iqra

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

CSNK2B 的新生变异通过破坏经典 Wnt 信号通路导致新的智力障碍——颅指综合征

Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, L

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family

SCN4A 的新型错义变异与库尔德人近亲家族中的先天性特发性震颤共同分离

Maria Asif, Ionut Dragos Mocanu, Uzma Abdullah, Wolfgang Höhne, Janine Altmüller, Ehtisham Ul Haq Makhdoom, Holger Thiele, Shahid Mahmood Baig, Peter Nürnberg, Luitgard Graul-Neumann, Muhammad Sajid Hussain

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

小头畸形中的修饰基因:关于 WDR62、CEP63、RAD50 和 PCNT 变异加剧 ASPM 和 CENPJ 双等位基因突变引起的疾病的报告

Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Jan

Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism

双等位基因 SYNE2 错义突变导致 Nesprin-2 巨大表达不足,与智力障碍和自闭症有关

Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou, Alberto Fernández-Ja

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

核孔复合体多个成分的突变导致肾病综合征

Daniela A Braun, Svjetlana Lovric, David Schapiro, Ronen Schneider, Jonathan Marquez, Maria Asif, Muhammad Sajid Hussain, Ankana Daga, Eugen Widmeier, Jia Rao, Shazia Ashraf, Weizhen Tan, C Patrick Lusk, Amy Kolb, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Kaitlyn Eddy,