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

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families

外显子组测序揭示巴基斯坦近亲结婚家庭神经肌肉疾病的广泛遗传异质性

Aleem, Tooba; Rashid, Maliha; Ahmad, Naeem; Asif, Muhammad Farrukh; Tariq, Muhammad; Malik, Naveed Altaf; Poulter, James A

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome

对患有佩茨-杰格斯综合征的核心家庭进行基因调查和转录组分析

Khan, Tahir N; Liu, Chunyu; Yap, Kai Lee; Satti, Humayoon Shafique; Khan, Ayaz; Safeer, Muhammad; Khan, Sheraz; Malik, Naveed Altaf; Zhang, Feng; Tariq, Muhammad; Davis, Erica E

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.

ENPP1 基因纯合剪接位点变异是婴儿期全身性动脉钙化的原因

Noor Ul Ayan Hafiza, Nitschke Yvonne, Mughal Abdul Razzaq, Thiele Holger, Malik Naveed Altaf, Hussain Ijaz, Haider Syed Muhammad Ijlal, Rutsch Frank, Erdmann Jeanette, Tariq Muhammad, Aherrahrou Zouhair, Ahmad Ilyas

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans

白细胞介素-11受体变异体p.W307R会导致人类颅缝早闭。

Ahmad, Ilyas; Lokau, Juliane; Kespohl, Birte; Malik, Naveed Altaf; Baig, Shahid Mahmood; Hartig, Roland; Behme, Daniel; Schwab, Roland; Altmüller, Janine; Jameel, Muhammad; Mucha, Sören; Thiele, Holger; Tariq, Muhammad; Nürnberg, Peter; Erdmann, Jeanette; Garbers, Christoph

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

对巴基斯坦近亲结婚家庭中罕见脊髓小脑疾病的遗传学调查

Saadi, Saadia Maryam; Cali, Elisa; Khalid, Lubaba Bintee; Yousaf, Hammad; Zafar, Ghazala; Khan, Haq Nawaz; Sher, Muhammad; Vona, Barbara; Abdullah, Uzma; Malik, Naveed Altaf; Klar, Joakim; Efthymiou, Stephanie; Dahl, Niklas; Houlden, Henry; Toft, Mathias; Baig, Shahid Mahmood; Fatima, Ambrin; Iqbal, Zafar

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

巴基斯坦一个家族中发现纯合AKNA移码变异与小头畸形相关

Waseem, Syeda Seema; Moawia, Abubakar; Budde, Birgit; Tariq, Muhammad; Khan, Ayaz; Ali, Zafar; Khan, Sheraz; Iqbal, Maria; Malik, Naveed Altaf; Haque, Saif Ul; Altmüller, Janine; Thiele, Holger; Hussain, Muhammad Sajid; Cirak, Sebahattin; Baig, Shahid Mahmood; Nürnberg, Peter

Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population

巴基斯坦人群中12个常染色体隐性遗传原发性小头畸形家族的临床和遗传异质性研究进展

Khan, Niaz Muhammad; Hussain, Basharat; Zheng, Chenqing; Khan, Ayaz; Masoud, Muhammad Shareef; Gu, Qingquan; Qiu, Linhui; Malik, Naveed Altaf; Qasim, Muhammad; Tariq, Muhammad; Chang, Junlei

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

SPG3A 的常染色体隐性遗传证据是由一种新的 ATL1 错义突变的纯合子引起的

Khan, Tahir Naeem; Klar, Joakim; Tariq, Muhammad; Anjum Baig, Shehla; Malik, Naveed Altaf; Yousaf, Raja; Baig, Shahid Mahmood; Dahl, Niklas

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

先天性甲沟炎中 RSPO4 基因的新型错义突变及多态性起始密码子 (p.M1I) 的证据

Khan, Tahir Naeem; Klar, Joakim; Nawaz, Sadia; Jameel, Muhammad; Tariq, Muhammad; Malik, Naveed Altaf; Baig, Shahid M; Dahl, Niklas