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Journal Abstract Search

176 related items for PubMed ID: 38956580

  • 1. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
    Hussain SI, Muhammad N, Shah SA, Rehman AU, Khan SA, Saleha S, Khan YM, Muhammad N, Khan S, Wasif N.
    BMC Med Genomics; 2024 Jul 02; 17(1):176. PubMed ID: 38956580
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  • 3. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H.
    BMC Med Genet; 2020 Mar 24; 21(1):59. PubMed ID: 32209057
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  • 5. Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
    Asif M, Anayat M, Tariq F, Noureen T, Din GNU, Becker C, Becker K, Thiele H, Makhdoom EUH, Shaiq PA, Baig SM, Nürnberg P, Hussain MS, Raja GK, Abdullah U.
    Genes (Basel); 2022 Dec 23; 14(1):. PubMed ID: 36672789
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  • 8. Description of novel variants in consanguineous Pakistani families affected with intellectual disability.
    Rasool IG, Zahoor MY, Ahmed I, Iqbal M, Shafqat S, Anjum AA, Shehzad W.
    Genes Genomics; 2023 Apr 23; 45(4):457-465. PubMed ID: 35150401
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  • 10. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
    Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ, UK10K, Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S.
    Mol Psychiatry; 2017 Nov 23; 22(11):1604-1614. PubMed ID: 27457812
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  • 11. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
    Rasool IG, Zahoor MY, Iqbal M, Anjum AA, Ashraf F, Abbas HQ, Baig HMA, Mahmood T, Shehzad W.
    Genes Genomics; 2021 May 23; 43(5):503-512. PubMed ID: 33710595
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  • 15. Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.
    Yasin M, Licchetta L, Khan N, Ullah I, Jan Z, Dawood M, Ahmed AN, Azeem A, Minardi R, Carelli V, Saleha S.
    BMC Neurol; 2024 May 23; 24(1):172. PubMed ID: 38783254
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  • 17. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
    Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM.
    Am J Hum Genet; 2014 Feb 06; 94(2):278-87. PubMed ID: 24439110
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  • 18. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
    Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Pippucci T, Bonora E, Sedlacek Z, Gecz J.
    Hum Mol Genet; 2015 Jun 15; 24(12):3335-47. PubMed ID: 25740848
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  • 19. 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.
    Hum Genet; 2018 Sep 15; 137(9):735-752. PubMed ID: 30167849
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