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Issue Date | Title | Author(s) |
---|---|---|
2019 | Combining clinical and genetic approaches in diagnosing a large Brazilian cohort of patients with 46, XY Differences of Sex Development (DSD) | GOMES, Nathalia Lisboa; BATISTA, Rafael Loch; NISHI, Mirian Y.; LERARIO, Antonio Marcondes; SILVA, Tatiane E.; FUNARI, Mariana; FARIA JUNIOR, Jose Antonio Diniz; SILVA, Daniela Moraes; MONTENEGRO, Luciana; COSTA, Elaine Maria Frade; JORGE, Alexander Augusto; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho |
2017 | GROWTH HORMONE (GH) THERAPY IMPROVES ADULT HEIGHT IN CHILDREN WITH NOONAN SYNDROME AND IDENTIFIED MUTATIONS IN PTPN11 GENE | NORONHA, Renata M.; HOMMA, Thais K.; SOUZA, Thaiana T.; FUNARI, Mariana; PEREIRA, Alexandre C.; BERTOLA, Debora; JORGE, Alexander; MALAQUIAS, Alexsandra C. |
2017 | GENOMIC APPROACHES TO INVESTIGATE CHILDREN BORN SMALL FOR GESTATIONAL AGE (SGA) WITHOUT CATCH UP-GROWTH | HOMMA, Thais K.; FREIRE, Bruna; FUNARI, Mariana; MALAQUIAS, Alexsandra; RONJO, Rachel; VASQUES, Gabriela; CANTON, Ana; KIM, Chong; BERTOLA, Debora; JORGE, Alexander |
2018 | The Metabolic Profile Associated with RASopathies | NORONHA, Renata; HOMMA, Thais; MORAES, Michelle; ALBUQUERQUE, Edoarda; FUNARI, Mariana; PEREIRA, Alexandre; VILLARES, Sandra; BERTOLA, Debora; JORGE, Alexander; MALAQUIAS, Alexsandra |
2016 | RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders | HOMMA, Thais; FUNARI, Mariana; LERARIO, Antonio; FREIRE, Bruna; NISHI, Mirian; YAMAMOTO, Guilherme; NASLAVSKY, Michel; ZATZ, Mayana; ARNHOLD, Ivo; JORGE, Alexander |
2018 | Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature | HOMMA, Thais; FREIRE, Bruna; RONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana; LERARIO, Antonio; ARNHOLD, Ivo; CANTON, Ana; SUGAYAMA, Sofia; BERTOLA, Debora; KIM, Chong; MALAQUIAS, Alexsandra; JORGE, Alexander |
2016 | Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure | FRANCA, Monica; FUNARI, Mariana; NISHI, Mirian; DOMENICE, Sorahia; LATRONICO, Ana Claudia; JORGE, Alexander; LERARIO, Antonio; MENDONCA, Berenice |
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