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Issue DateTitleAuthor(s)
2016RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth DisordersHOMMA, Thais; FUNARI, Mariana; LERARIO, Antonio; FREIRE, Bruna; NISHI, Mirian; YAMAMOTO, Guilherme; NASLAVSKY, Michel; ZATZ, Mayana; ARNHOLD, Ivo; JORGE, Alexander
2016Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown EtiologyCANTON, Ana; HOMMA, Thais; FURUYA, Tatiane; ROELA, Rosimeire; ARNHOLD, Ivo; JORGE, Alexander
2016Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic SpectrumGKOUROGIANNI, Alexandra; ANDREW, Melissa; CROCKER, Melissa; DUNBAR, Nancy; JORGE, Alexander; LAFRANCHI, Stephen; LALANI, Seema; LEBL, Jan; LIN, Lynda; LOS, Evan; NEWBERN, Dorothee; NOWAK, Catherine; OLSON, Micah; POPOVIC, Jadranka; PRUHOVA, Stepanka; QUINTOS, Jose Bernardo; SENTCHORDI, Lucia; BARON, Jeffrey; NILSSON, Ola; DAUBER, Andrew
2016Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian FailureFRANCA, Monica; FUNARI, Mariana; NISHI, Mirian; DOMENICE, Sorahia; LATRONICO, Ana Claudia; JORGE, Alexander; LERARIO, Antonio; MENDONCA, Berenice
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