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Year Number of Results
2002 2
2005 2
2006 1
2010 1
2011 2
2012 3
2013 7
2014 4
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2016 3
2017 6
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2019 7
2020 10
2021 10
2022 8
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62 results

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Page 1
Are some C19orf12 variants monoallelic for neurological disorders?
Tariq H, Butt JUR, Houlden H, Naz S. Tariq H, et al. Among authors: naz s. Parkinsonism Relat Disord. 2019 Aug;65:267-269. doi: 10.1016/j.parkreldis.2019.05.020. Epub 2019 May 13. Parkinsonism Relat Disord. 2019. PMID: 31105013 No abstract available.
RIN2 and BBS7 variants as cause of a coincidental syndrome.
Shaukat M, Ishaq T, Muhammad N, Naz S. Shaukat M, et al. Among authors: naz s. Eur J Med Genet. 2020 Mar;63(3):103755. doi: 10.1016/j.ejmg.2019.103755. Epub 2019 Sep 12. Eur J Med Genet. 2020. PMID: 31521835
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Among authors: naz s. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Rasheed A, et al. Among authors: naz s. J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439809 Free PMC article.
62 results