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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: ullah i. 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
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W. Khan H, et al. Among authors: ullah i. J Hum Genet. 2022 May;67(5):253-259. doi: 10.1038/s10038-021-00995-x. Epub 2021 Dec 3. J Hum Genet. 2022. PMID: 34857885
1,137 results