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Journal Abstract Search


389 related items for PubMed ID: 2349049

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  • 6. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
    Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.
    Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977
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  • 14. Distal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report.
    Wong SL, Chou HH, Chao CN, Leung JH, Chen YH, Hsu CD.
    BMC Res Notes; 2015 Jun 19; 8():250. PubMed ID: 26088875
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  • 16. [Smith-Lemli-Opitz syndrome].
    Metzke H, Lässig W, Köhler H.
    Padiatr Padol; 1972 Jun 19; 7(3):259-66. PubMed ID: 5056401
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  • 20. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.
    Eur J Med Genet; 2012 Nov 19; 55(11):656-9. PubMed ID: 22842074
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