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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

128 related items for PubMed ID: 30943680

  • 1.
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  • 2. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
    Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S.
    Clin Genet; 2013 Feb; 83(2):125-34. PubMed ID: 22462537
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  • 3. 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; 78(2):303-14. PubMed ID: 16400610
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  • 4. Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.
    Bozkaya OG, Ataman E, Randa C, Cura DO, Gürsoy S, Aksel O, Ulgenalp A.
    Balkan J Med Genet; 2015 Jun; 18(1):65-70. PubMed ID: 26929907
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  • 8. Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.
    Martínez-Quintana E, Rodríguez-González F, Garay-Sánchez P, Tugores A.
    Mol Syndromol; 2014 Jan; 5(1):36-40. PubMed ID: 24550764
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  • 9. Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.
    Kim Y, Lee HS, Yu JS, Ahn K, Ki CS, Kim J.
    Korean J Pediatr; 2014 Jan; 57(1):46-9. PubMed ID: 24578717
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  • 10. Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.
    Kim JH, Choi Y, Hwang S, Kim GH, Yoo HW, Choi JH.
    Endocr Connect; 2022 Feb 11; 11(2):. PubMed ID: 35015700
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  • 11. Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
    Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP.
    Eur J Hum Genet; 2010 Feb 11; 18(2):171-7. PubMed ID: 19809474
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  • 12. Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
    Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N.
    Clin Pediatr Endocrinol; 2014 Apr 11; 23(2):45-51. PubMed ID: 24790386
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  • 15. 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 11; 74(1):31-8. PubMed ID: 18445044
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  • 17. Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.
    Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM.
    Mamm Genome; 2007 Feb 11; 18(2):94-104. PubMed ID: 17334657
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  • 18. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
    Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM.
    J Med Genet; 2011 May 11; 48(5):334-42. PubMed ID: 21378379
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  • 19. Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome.
    Liu H, Liu ZZ.
    Behav Brain Res; 2020 Jan 27; 378():112293. PubMed ID: 31610215
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  • 20. [CHARGE syndrome].
    Lobete Prieto CJ, Llano Rivas I, Fernández Toral J, Madero Barrajón P.
    Arch Argent Pediatr; 2010 Feb 27; 108(1):e9-e12. PubMed ID: 20204230
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