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Issue Date | Title | Author(s) |
---|---|---|
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 |
2016 | Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology | CANTON, Ana; HOMMA, Thais; FURUYA, Tatiane; ROELA, Rosimeire; ARNHOLD, Ivo; JORGE, Alexander |
2016 | Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum | GKOUROGIANNI, 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 |
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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