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23 results
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Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Ali G, Sadia, Foo JN, Nasir A, Chang CH, Chew EG, Latif Z, Azeem Z, Ain-Ul-Batool S, Kazmi SAR, Awan NB, Khan AH, Rehman FU, Khalid M, Wali A, Sarwar S, Akhtar W, Ahmed Abbasi A, Nisar R. Ali G, et al. Among authors: azeem z. Biomed Res Int. 2021 Feb 23;2021:6626015. doi: 10.1155/2021/6626015. eCollection 2021. Biomed Res Int. 2021. PMID: 33688495 Free PMC article.
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.
Abdullah, Yousaf M, Azeem Z, Bilal M, Liaqat K, Hussain S, Ahmad F, Ghous T, Ullah A, Ahmad W. Abdullah, et al. Among authors: azeem z. Genet Test Mol Biomarkers. 2019 Oct;23(10):744-750. doi: 10.1089/gtmb.2019.0071. Epub 2019 Oct 1. Genet Test Mol Biomarkers. 2019. PMID: 31573334
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Santos-Cortez RLP, et al. Among authors: azeem z. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167849 Free PMC article.
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: azeem z. 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.
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