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Journal Abstract Search

170 related items for PubMed ID: 38926176

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  • 11. Genetic heterogeneity in Pakistani microcephaly families.
    Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L.
    Clin Genet; 2013 May; 83(5):446-51. PubMed ID: 22775483
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  • 12. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.
    Tan CA, Topper S, Ward Melver C, Stein J, Reeder A, Arndt K, Das S.
    Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037
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  • 14. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.
    Aryan H, Zokaei S, Farhud D, Keykhaei M, Ashrafi MR, Rasulinezhad M, Hosseini SMM, Razmara E, Tavasoli AR.
    Ir J Med Sci; 2022 Dec; 191(6):2733-2741. PubMed ID: 35031939
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  • 15. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.
    Saima, Khan A, Ali S, Jiang J, Miao Z, Kamil A, Khan SN, Arold ST.
    Neurogenetics; 2024 Jul; 25(3):179-191. PubMed ID: 38795246
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  • 16. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
    Batool T, Irshad S, Mahmood K.
    Braz J Biol; 2021 Jul; 83():e246040. PubMed ID: 34378666
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  • 18. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
    Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S.
    Ann Saudi Med; 2016 Jul; 36(6):391-396. PubMed ID: 27920410
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  • 19. A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
    Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S.
    Brain Dev; 2018 Jan; 40(1):58-64. PubMed ID: 28756000
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  • 20. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
    Mercan S, Akcakaya NH, Salman B, Yapici Z, Ozbek U, Ugur Iseri SA.
    Genes Genomics; 2023 Jan; 45(1):13-21. PubMed ID: 36371492
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