Search Results - "Pilla, Ana Luiza"
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Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
Published in Radiology case reports (01-12-2020)“…Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral…”
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A model for pediatric and neuropsychological screening assessment of children with learning disabilities
Published in Dementia & neuropsychologia (2012)“…The high frequency of learning difficulties, attention disorders or developmental delay in children in the early years of schooling has resulted in a greater…”
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Duplication 9p and their implication to phenotype
Published in BMC genetics (20-12-2014)“…Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with…”
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Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
Published in Molecular cytogenetics (22-08-2014)“…Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise…”
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Journal Article -
5
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
Published in Radiology case reports (01-12-2020)Get full text
Report -
6
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
Published in Molecular cytogenetics (01-01-2014)“…BACKGROUNDPartial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the…”
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Report