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Page 1
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
Genes (Basel). 2021 Aug 21;12(8):1282. doi: 10.3390/genes12081282.
Genes (Basel). 2021.
PMID: 34440456
Free PMC article.
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
Zulfiqar S, Tariq M, Ali Z, Fatima A, Klar J, Abdullah U, Ali A, Ramzan S, He S, Zhang J, Khan A, Shah S, Khan S, Makhdoom EH, Schuster J, Dahl N, Baig SM.
Zulfiqar S, et al. Among authors: ramzan s.
J Clin Neurosci. 2019 Sep;67:19-23. doi: 10.1016/j.jocn.2019.06.039. Epub 2019 Jul 4.
J Clin Neurosci. 2019.
PMID: 31281085
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Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
Zulfiqar S, Moawia A, Waseem SS, Ali Z, Ramzan S, Anjum I, Baig SM, Tariq M.
Zulfiqar S, et al. Among authors: ramzan s.
Int J Neurosci. 2024 Jun;134(1):28-33. doi: 10.1080/00207454.2022.2082967. Epub 2022 Jun 12.
Int J Neurosci. 2024.
PMID: 35645363
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Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.
Zulfiqar S, Tariq M, Ramzan S, Khan A, Sher M, Ali Z, Dahl N, Abdullah U, Mahmood Baig S.
Zulfiqar S, et al. Among authors: ramzan s.
J Clin Neurosci. 2021 Dec;94:8-12. doi: 10.1016/j.jocn.2021.09.027. Epub 2021 Sep 30.
J Clin Neurosci. 2021.
PMID: 34863467
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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 S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS.
Rasool S, et al. Among authors: ramzan s.
Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17.
Mol Genet Genomic Med. 2020.
PMID: 32677750
Free PMC article.
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