Search Results - "Carlos Guilherme Gaelzer Porciúncula"

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    Blomstrand chondrodysplasia : a lethal sclerosing skeletal dysplasia : Case report and review by GALERA, M. F, REIS DE SILVA PATRICIO, F, LEDERMAN, H. M, GAELZER PORCIUNCULA, C. G, MONLLEO, I. L, BRUNONI, D

    Published in Pediatric radiology (01-11-1999)
    “…We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. The main findings in this…”
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    Journal Article
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    Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome by Trarbach, Ericka Barbosa, Monlleo, Isabella Lopes, Porciuncula, Carlos Guilherme Gaelzer, Fontes, Marshall Italo Barros, Baptista, Maria Teresa Mathias, Hackel, Christine

    Published in Genetics and molecular biology (2004)
    “…Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the…”
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    Journal Article
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    Family care practitioners experience with individuals with orofacial clefts in Brazil by Anjos, Filipe Silveira dos, Bueno, Bruna Henrique, Lipinski-Figueiredo, Eneida, Porciuncula, Carlos Guilherme Gaelzer, Gil-da-Silva-Lopes, Vera Lúcia, Monlleó, Isabella Lopes

    Published in Cadernos saúde coletiva (01-09-2013)
    “…INTRODUCTION: Orofacial clefts are among the most prevalent birth defects worldwide. Specialized treatment and surveillance of basic health needs are critical…”
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    Journal Article
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    Cleidocranial dysostosis: a report on two familial cases by Porciuncula, Carlos Guilherme Gaelzer, Lira, Ricardo Ferreira de, Soares, Maria Lúcia Lima, Araújo, Diego Lisboa, Mota, Lucas Rocha, Lira, Larine Ferreira

    Published in Radiologia brasileira (01-12-2013)
    “…Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia…”
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    Journal Article