Search Results - "Puente, Viviana Gómez"
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Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features
Published in Gene (15-10-2013)“…We report here a child with a ring chromosome 2 [r(2)] associated with failure to thrive, microcephaly and dysmorphic features. The chromosomal aberration was…”
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Proteomic profile of serum of pregnant women carring a fetus with Down syndrome using nano uplc Q-tof ms/ms technology
Published in The journal of maternal-fetal & neonatal medicine (03-06-2018)“…Introduction: Prenatal diagnosis of Down syndrome (DS) is based on the calculated risk of maternal age, biochemical and ultrasonographic markers and recently…”
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Gene Copy Number Quantification of SHOX , VAMP7 , and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates
Published in Genetic testing and molecular biomarkers (01-06-2020)“…To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox ( ),…”
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Presentación y discusión de un paciente con pentalogía de Cantrell
Published in Revista cubana de obstetricia y ginecología (01-08-2004)“…Es un raro síndrome caracterizado por una disrupción en el esternón bajo, ectopia cordis, defectos anteriores del diafragma, defectos en la pared abdominal…”
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Journal Article