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

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes

智力障碍研究不仅发现了已知基因的变异,还证实了新基因的候选资格。

Butt, Amina Iftikhar; Bazai, Fariya Khan; Kakar, Kaleemullah; Daud, Shakeela; Seo, Go Hun; Ahmad, Jamil; Naz, Sadaf

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families

巴基斯坦近亲结婚家庭中隐性遗传性共济失调和神经病变的分子特征分析

Aslam, Faiza; Wajid, Muhammad; Butt, Amina Iftikhar; Wohler, Elizabeth; Seo, Go Hun; Ji, Weizhen; Lakhani, Saquib A; Sobreira, Nara; Naz, Sadaf

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness

截短的CDC14A保留了催化结构和磷酸酶活性,从而保留了男性生育能力,但会导致非综合征性耳聋。

Shabbir, Kanwal; Jackisch, Gina; Belyantseva, Inna A; Imran, Muhammad; Naz, Sadaf; Sele, Céleste; Murina, Victoriia; Knecht, Wolfgang; Friedman, Thomas B; Logan, Derek T; Imtiaz, Ayesha

Genetic Variants from Large Cohorts and Familial Studies Implicate Common Mechanisms in Schizophrenia

来自大型队列和家族研究的遗传变异揭示了精神分裂症的共同机制

Kanwal, Ambreen; Pardo, José V; Naz, Sadaf

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis

INSR 和 NFXL1 中的罕见纯合变异与严重的难治性精神病相关

Kanwal, Ambreen; Zulfiqar, Rimsha; Cheema, Husnain Arshad; Jabbar, Nauman; Iftikhar, Amina; Butt, Amina Iftikhar; Sheikh, Sohail A; Pardo, Jose V; Naz, Sadaf

Identification and analyses of exonic and copy number variants in spastic paraplegia

痉挛性截瘫中外显子和拷贝数变异的鉴定和分析

Shafique, Anum; Nadeem, Ayesha; Aslam, Faiza; Manzoor, Humera; Noman, Muhammad; Wohler, Elizabeth; Witmer, P Dane; Sobreira, Nara; Naz, Sadaf

Safety Evaluation and antioxidant potential of new probiotic strain Bacillus subtilis (NMCC-path-14) in Balb/c mice by sub-acute repeated dose toxicity

通过亚急性重复剂量毒性试验评估新型益生菌菌株枯草芽孢杆菌(NMCC-path-14)在Balb/c小鼠中的安全性和抗氧化潜力

Mazhar, Muhammad Usama; Naz, Sadaf; Khan, Jehan Zeb; Khalid, Sharjeel; Ghazanfar, Shakira; Selim, Samy; Tipu, Muhammad Khalid; Ashique, Sumel; Yasmin, Sabina; Almuhayawi, Mohammed S; Alshahrani, Aziza; Ansari, Mohammad Yousuf

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

PKHD1L1基因参与纤毛外层结构形成,该基因突变会导致常染色体隐性遗传性非综合征型听力损失。

Redfield, Shelby E; De-la-Torre, Pedro; Zamani, Mina; Wang, Hanjun; Khan, Hina; Morris, Tyler; Shariati, Gholamreza; Karimi, Majid; Kenna, Margaret A; Seo, Go Hun; Xu, Hongen; Lu, Wei; Naz, Sadaf; Galehdari, Hamid; Indzhykulian, Artur A; Shearer, A Eliot; Vona, Barbara

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.

DCAF13 的一个双等位基因变异与人类的神经肌肉疾病有关

Manzoor Humera, Zahid Hafsa, Emerling Christopher A, Kumar Kishore R, Hussain Hafiz Muhammad Jafar, Seo Go Hun, Wajid Muhammad, Naz Sadaf