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Year Number of Results
2009 1
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2012 2
2014 4
2016 1
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2020 1
2021 3
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2023 2
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16 results

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Page 1
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: malik na. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC article.
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, Baig SM, Malik NA, Zhang F, Khan TN, Liu C. Khan A, et al. Among authors: malik na. Mol Genet Genomics. 2022 Nov;297(6):1601-1613. doi: 10.1007/s00438-022-01945-8. Epub 2022 Aug 24. Mol Genet Genomics. 2022. PMID: 36002593
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.
Ketley A, Wojciechowska M, Ghidelli-Disse S, Bamborough P, Ghosh TK, Morato ML, Sedehizadeh S, Malik NA, Tang Z, Powalowska P, Tanner M, Billeter-Clark R, Trueman RC, Geiszler PC, Agostini A, Othman O, Bösche M, Bantscheff M, Rüdiger M, Mossakowska DE, Drewry DH, Zuercher WJ, Thornton CA, Drewes G, Uings I, Hayes CJ, Brook JD. Ketley A, et al. Among authors: malik na. Sci Transl Med. 2020 Apr 29;12(541):eaaz2415. doi: 10.1126/scitranslmed.aaz2415. Sci Transl Med. 2020. PMID: 32350131
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. Kaygusuz E, et al. Among authors: malik na. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34270086
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N. Klar J, et al. Among authors: malik na. J Clin Invest. 2014 Nov;124(11):4773-80. doi: 10.1172/JCI70720. Epub 2014 Oct 20. J Clin Invest. 2014. PMID: 25329695 Free PMC article.
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA. Sukumaran SK, et al. Among authors: malik na. Mol Genet Genomics. 2017 Apr;292(2):365-383. doi: 10.1007/s00438-016-1277-x. Epub 2016 Dec 21. Mol Genet Genomics. 2017. PMID: 28004182 Free PMC article.
16 results