Search Results - "Pilla, Ana Luiza"

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  1. 1

    Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis by de França, Marina, de Faria Soares, Maria de Fátima, Luce, Ana Luiza Pilla, Perrone, Eduardo

    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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    Journal Article
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  3. 3

    Duplication 9p and their implication to phenotype by Guilherme, Roberta Santos, Meloni, Vera Ayres, Perez, Ana Beatriz Alvarez, Pilla, Ana Luiza, de Ramos, Marco Antonio Paula, Dantas, Anelisa Gollo, Takeno, Sylvia Satomi, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel

    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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    Journal Article
  4. 4

    Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up by Meloni, Vera Ayres, Takeno, Sylvia Satomi, Pilla, Ana Luiza, de Mello, Claudia Berlim, Melaragno, Maria Isabel, Kulikowski, Leslie Domenici

    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. 5
  6. 6

    Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up by Meloni, Vera Ayres, Takeno, Sylvia Satomi, Pilla, Ana Luiza, de Mello, Claudia Berlim, Melaragno, Maria Isabel, Kulikowski, Leslie Domenici

    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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