Khan S - Search Results

1

Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.

Fozia F, Nazli R, Alam Khan S, Bari A, Nasir A, Ullah R, Mahmood HM, Sohaib M, Alobaid A, Ansari SA, Basit S, Khan S. Fozia F, et al. Among authors: khan s. Genes (Basel). 2021 Mar 5;12(3):373. doi: 10.3390/genes12030373. Genes (Basel). 2021. PMID: 33807935 Free PMC article.

2

A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

Habib R, Basit S, Khan S, Khan MN, Ahmad W. Habib R, et al. Among authors: khan s, khan mn. Gene. 2011 Dec 15;490(1-2):26-31. doi: 10.1016/j.gene.2011.09.002. Epub 2011 Sep 22. Gene. 2011. PMID: 21963443

3

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, Ahmad W. Khan S, et al. Among authors: khan mn. Gene. 2013 Feb 15;515(1):84-8. doi: 10.1016/j.gene.2012.11.023. Epub 2012 Dec 6. Gene. 2013. PMID: 23219996

4

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.

Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM. Santos-Cortez RL, et al. Among authors: khan s. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768514 Free PMC article.

5

Genetics of human isolated acromesomelic dysplasia.

Khan S, Basit S, Khan MA, Muhammad N, Ahmad W. Khan S, et al. Among authors: khan ma. Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011. Epub 2016 Feb 27. Eur J Med Genet. 2016. PMID: 26926249 Review.

6

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Irfanullah; Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W. Irfanullah, et al. Among authors: khan s. Am J Med Genet A. 2016 Dec;170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27570071

7

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S. Khan AK, et al. Among authors: khan s, khan ma, khan sa. BMC Med Genet. 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y. BMC Med Genet. 2017. PMID: 28403827 Free PMC article.

8

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.

Qasim I, Ahmad B, Khan MA, Khan N, Muhammad N, Basit S, Khan S. Qasim I, et al. Among authors: khan s, khan n, khan ma. Eur J Med Genet. 2018 Apr;61(4):204-208. doi: 10.1016/j.ejmg.2017.11.015. Epub 2017 Dec 7. Eur J Med Genet. 2018. PMID: 29223505

9

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Khan AK, Muhammad N, Khan SA, Ullah W, Nasir A, Afzal S, Ramzan K, Basit S, Khan S. Khan AK, et al. Among authors: khan s, khan sa. Ann Hum Genet. 2018 May;82(3):171-176. doi: 10.1111/ahg.12239. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282707

10

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.

Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S. Lin S, et al. Among authors: khan s. BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. BMC Med Genet. 2018. PMID: 30200890 Free PMC article.

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