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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

111 related items for PubMed ID: 25626710

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  • 4. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
    Al-Amri A, Saegh AA, Al-Mamari W, El-Asrag ME, Ivorra JL, Cardno AG, Inglehearn CF, Clapcote SJ, Ali M.
    Am J Med Genet A; 2016 Jul; 170(7):1826-31. PubMed ID: 27148795
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  • 5. A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
    Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
    BMC Med Genet; 2011 Apr 22; 12():56. PubMed ID: 21513506
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  • 7. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.
    Ha K, Shen Y, Graves T, Kim CH, Kim HG.
    Mol Cytogenet; 2016 Apr 22; 9():74. PubMed ID: 27708714
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  • 8. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
    McSherry M, Masih KE, Elcioglu NH, Celik P, Balci O, Cengiz FB, Nunez D, Sineni CJ, Seyhan S, Kocaoglu D, Guo S, Duman D, Bademci G, Tekin M.
    PLoS One; 2018 Apr 22; 13(11):e0208324. PubMed ID: 30500859
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  • 19. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
    Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C.
    J Med Genet; 2012 Jun 22; 49(6):400-8. PubMed ID: 22693284
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