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Journal Abstract Search

196 related items for PubMed ID: 23956205

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  • 3. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
    Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM.
    Eur J Med Genet; 2008; 51(5):417-25. PubMed ID: 18472328
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  • 5. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
    Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network.
    Am J Med Genet A; 2021 Feb; 185(2):544-548. PubMed ID: 33184947
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  • 6. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
    Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.
    Clin Genet; 2008 Jul; 74(1):31-8. PubMed ID: 18445044
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  • 7. A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
    Siavrienė E, Petraitytė G, Mikštienė V, Rančelis T, Maldžienė Ž, Morkūnienė A, Byčkova J, Utkus A, Kučinskas V, Preikšaitienė E.
    BMC Med Genet; 2019 Jul 17; 20(1):127. PubMed ID: 31315586
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  • 12. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
    Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.
    Hum Mol Genet; 2014 Aug 15; 23(16):4396-405. PubMed ID: 24705355
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  • 13. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
    Am J Hum Genet; 2006 Feb 15; 78(2):303-14. PubMed ID: 16400610
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  • 14. A novel CHD7 variant in a chinese family with CHARGE syndrome.
    Shan Y, Yao L, Li L, Gao X, Jiang J.
    Genes Genomics; 2024 Mar 15; 46(3):379-387. PubMed ID: 37273125
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