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Journal Abstract Search

145 related items for PubMed ID: 33921338

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  • 2. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
    Kharrat M, Triki C, Ben Isaa A, Bouchaala W, Alila O, Chouchen J, Ghouliya Y, Kamoun F, Tlili A, Fakhfakh F.
    J Hum Genet; 2024 Jul; 69(7):291-299. PubMed ID: 38467738
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  • 3. 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; 43(5):503-512. PubMed ID: 33710595
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  • 5. A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
    Amin M, Vignal C, Eltaraifee E, Mohammed IN, Hamed AAA, Elseed MA, Babai A, Elbadi I, Mustafa D, Abubaker R, Mustafa M, Drunat S, Elsayed LEO, Ahmed AE, Boespflug-Tanguy O, Dorboz I.
    BMC Med Genomics; 2022 Nov 08; 15(1):236. PubMed ID: 36348459
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  • 15. Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
    Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T.
    Clin Genet; 2017 Dec 08; 92(6):669-670. PubMed ID: 28960266
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  • 16. Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
    Sheth J, Ranjan G, Shah K, Bhavsar R, Sheth F.
    Am J Med Genet A; 2017 Apr 08; 173(4):1041-1046. PubMed ID: 28181389
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