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PUBMED FOR HANDHELDS

Journal Abstract Search


112 related items for PubMed ID: 25740848

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  • 5. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
    Wongkittichote P, Wegner DJ, Shinawi MS.
    J Hum Genet; 2021 Jul; 66(7):717-724. PubMed ID: 33517344
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  • 7. Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
    Gérard M, Morin G, Bourillon A, Colson C, Mathieu S, Rabier D, Billette de Villemeur T, Ogier de Baulny H, Benoist JF.
    Eur J Med Genet; 2015 Mar; 58(3):148-53. PubMed ID: 25595573
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  • 8. 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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  • 9. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
    Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J.
    Am J Hum Genet; 2012 Oct 05; 91(4):694-702. PubMed ID: 23000143
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  • 13. A critical role of RBM8a in proliferation and differentiation of embryonic neural progenitors.
    Zou D, McSweeney C, Sebastian A, Reynolds DJ, Dong F, Zhou Y, Deng D, Wang Y, Liu L, Zhu J, Zou J, Shi Y, Albert I, Mao Y.
    Neural Dev; 2015 Jun 21; 10():18. PubMed ID: 26094033
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  • 17. A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
    Koufaris C, Alexandrou A, Tanteles GA, Anastasiadou V, Sismani C.
    Biomed Rep; 2016 Feb 21; 4(2):215-218. PubMed ID: 26893841
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  • 18. Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
    Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J.
    Am J Med Genet A; 2019 Jul 21; 179(7):1214-1225. PubMed ID: 31069901
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