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Journal Abstract Search

681 related items for PubMed ID: 26566883

  • 1. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
    Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S.
    J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
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  • 3. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
    Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.
    J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
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  • 4. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.
    Eur J Med Genet; 2020 May; 63(5):103853. PubMed ID: 31978613
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  • 10. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
    Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G.
    Eur J Hum Genet; 2017 Feb; 25(3):376-380. PubMed ID: 28051072
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  • 11. A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
    Usmani MA, Ghaffar A, Shahzad M, Akram J, Majeed AI, Malik K, Fatima K, Khan AA, Ahmed ZM, Riazuddin S, Riazuddin S.
    Genes (Basel); 2024 May 02; 15(5):. PubMed ID: 38790209
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  • 12. 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 02; 43(5):503-512. PubMed ID: 33710595
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  • 15. 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 02; 45(4):457-465. PubMed ID: 35150401
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  • 16. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
    Froukh TJ.
    Tohoku J Exp Med; 2017 Dec 02; 243(4):297-309. PubMed ID: 29269699
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  • 18. The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
    Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.
    PLoS One; 2015 Dec 02; 10(8):e0129631. PubMed ID: 26308914
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  • 20. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
    Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H.
    Am J Hum Genet; 2011 Jul 15; 89(1):176-82. PubMed ID: 21763484
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