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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

134 related items for PubMed ID: 36708132

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  • 4. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
    Song MH, Cho HJ, Lee HK, Kwon TJ, Lee WS, Oh S, Bok J, Choi JY, Kim UK.
    PLoS One; 2011; 6(9):e24511. PubMed ID: 21931733
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  • 6. An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.
    Ogier JM, Arhatari BD, Carpinelli MR, McColl BK, Wilson MA, Burt RA.
    Sci Rep; 2018 Apr 03; 8(1):5482. PubMed ID: 29615807
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  • 7. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 03; 35(8):1466-70. PubMed ID: 24979395
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  • 8. 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 03; 185(2):544-548. PubMed ID: 33184947
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  • 12. Family history and clefting as major criteria for CHARGE syndrome.
    Hughes SS, Welsh HI, Safina NP, Bejaoui K, Ardinger HH.
    Am J Med Genet A; 2014 Jan 03; 164A(1):48-53. PubMed ID: 24214489
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  • 13. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
    Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W.
    BMC Med Genet; 2019 May 30; 20(1):93. PubMed ID: 31146700
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  • 18. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
    Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F.
    Eur J Hum Genet; 2018 Feb 30; 26(2):287-292. PubMed ID: 29255276
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