Treffer 1 - 20 von 1.426 für Suche '"1332"', Suchdauer: 0,25s Treffer weiter einschränken
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    “… This study aimed to examine the effectiveness of defibrinogen therapy on functional recovery and safety among 1332 consecutive ischemic stroke patients who had not received intravenous thrombolysis with recombinant tissue plasminogen activator.  …”
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    “… We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features.  …”
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    “… Results: Analysis of AT2R -1332 G:A polymorphism indicated the absence of association between this polymorphism with T2DM and diabetic nephropathy.  …”
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    “… We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients. …”
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    “… Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo 2.024 Mb subtelomeric 22q13.32-q13.33 deletion, which is associated with Phelan-McDermid syndrome, and a maternal single gene 382-kb TUSC7 deletion of uncertain clinical significance located in the region of the 3q13.31 deletion syndrome.  …”
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    “… Hereby, we presented a Chinese boy with a novel 4.36 Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial appearance and mild intellectual abnormality.  …”
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    “… Association of the increased copy number of the 20q11-q13.32 region with drug resistance may be complex and could involve multiple genes.  …”
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