A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family
Ibrahim, Rabab, Zafar, Ghazala, Ramzan, Shafaq, Zahra, Hijab, Ali, Asmat, Ibrahim, Shahnaz, Toft, Mathias, Iqbal, Zafar, Fatima, Ambrin
Published in Rare (2024)
Published in Rare (2024)
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A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family
Ramzan, Shafaq, Tennstedt, Stephanie, Tariq, Muhammad, Khan, Sheraz, Noor Ul Ayan, Hafiza, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nürnberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette, Ahmad, Ilyas
Published in Genes (21.08.2021)
Published in Genes (21.08.2021)
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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family
Zulfiqar, Shumaila, Moawia, Abubakar, Waseem, Syeda Seema, Ali, Zafar, Ramzan, Shafaq, Anjum, Iram, Baig, Shahid Mahmood, Tariq, Muhammad
Published in International journal of neuroscience (01.06.2024)
Published in International journal of neuroscience (01.06.2024)
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Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family
Zulfiqar, Shumaila, Tariq, Muhammad, Ramzan, Shafaq, Khan, Ayaz, Sher, Muhammad, Ali, Zafar, Dahl, Niklas, Abdullah, Uzma, Mahmood Baig, Shahid
Published in Journal of clinical neuroscience (01.12.2021)
Published in Journal of clinical neuroscience (01.12.2021)
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Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
Zulfiqar, Shumaila, Tariq, Muhammad, Ali, Zafar, Fatima, Ambrin, Klar, Joakim, Abdullah, Uzma, Ali, Aamir, Ramzan, Shafaq, He, Sijie, Zhang, Jianguo, Khan, Ayaz, Shah, Suleman, Khan, Sheraz, Makhdoom, Ehtishamul Haq, Schuster, Jens, Dahl, Niklas, Baig, Shahid Mahmood
Published in Journal of clinical neuroscience (01.09.2019)
Published in Journal of clinical neuroscience (01.09.2019)
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