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Author/Creator Funari, Mariana F A

1. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR. Issue 5 (May 2019)

Authors:
Nakaguma, Marilena; Correa, Fernanda A; Santana, Lucas S; Benedetti, Anna F F; Perez, Ricardo V; Huayllas, Martha K P; Miras, Mirta B; Funari, Mariana F A; Lerario, Antonio M; Mendonca, Berenice B; Carvalho, Luciani R S; Jorge, Alexander A L; Arnhold, Ivo J P
Journal:
Endocrine connections
Issue:
Volume 8:Issue 5(2019)
Page Start:
590
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. Issue 3 (31st December 2020)

Authors:
Noronha, Renata M.; Villares, Sandra M F; Torres, Natalia; Quedas, Elisangela P S; Homma, Thais Kataoka; Albuquerque, Edoarda V A; Moraes, Michelle B; Funari, Mariana F A; Bertola, Debora R; Jorge, Alexander A L; Malaquias, Alexsandra C
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 3(2021)
Page Start:
774
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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