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pro vyhledávání: '"Diniz, Bruna L."'
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Autor:
Floriani, Maiara A., Santos, Andressa S., Diniz, Bruna L., Glaeser, Andressa B., Gazzola Zen, Paulo R., Machado Rosa, Rafael F.
Publikováno v:
Molecular Syndromology; 2023, Vol. 14 Issue 1, p1-10, 10p
Autor:
Ferreira,Maria Angélica T., Gonzales,João Francisco O., Diniz,Bruna L., Floriani,Maiara A., Bau,Ana Elisa K., Rosa,Rosana C. M., Rosa,Rafael Fabiano M., Zen,Paulo Ricardo G.
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 54, Issue: 5, Pages: 333-335, Published: OCT 2018
Jornal Brasileiro de Patologia e Medicina Laboratorial v.54 n.5 2018
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Jornal Brasileiro de Patologia e Medicina Laboratorial v.54 n.5 2018
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Monilethrix is a genetic condition that affects the hair shaft. We describe a family with this disease, focusing on its clinical aspects and microscopic hair characteristics. The patient was a 10-year-old female with history of hypotrichosis. In addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a3c68c9cb6ed026dfd4e435361d29f0b
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500333&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000500333&lng=en&tlng=en
Autor:
Pereira, Camilla M. V., Cruz, Larissa V., Girotto, Marina C., Cunha, André C., Telles, Jorge Alberto B., Diniz, Bruna L., Rosa, Rosana C. M., Zen, Paulo Ricardo G., Rosa, Rafael Fabiano M.
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial v.54 n.2 2018
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 54, Issue: 2, Pages: 109-110, Published: APR 2018
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Jornal Brasileiro de Patologia e Medicina Laboratorial, Volume: 54, Issue: 2, Pages: 109-110, Published: APR 2018
Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis (PA), an association still not described in the literature. Fetal ultrasound revealed right renal a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::851eed9e2023f4655d7409191b94b68e
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000200109
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000200109
Increased levels of chitotriosidase in a patient with Alagille syndrome: association or coincidence?
Autor:
Diniz,Bruna L., Floriani,Maiara A., Ferreira,Maria Angélica T., Gonzales,João Francisco O., Lisboa,Nathan H., Jakimiu,André Ricardo, Ferreira,Janaina Yacy H., Rosa,Rafael Fabiano M., Zen,Paulo Ricardo G.
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial v.54 n.1 2018
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
Jornal Brasileiro de Patologia e Medicina Laboratorial
Sociedade Brasileira de Patologia (SBP)
instacron:SBP
We describe a case of a patient with Alagille syndrome (AS) presenting an increased level of the enzyme chitotriosidase (ChT), evaluating factors that could justify the relationship between AS and ChT. He was a male patient with cholestatic jaundice,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::ac31017e6eccd824aeb28390764c2c99
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000100037
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442018000100037