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Issue Date | Title | Author(s) |
---|---|---|
2016 | The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown Etiology | CANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A. |
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 | Final Adult Height of Patients with Disorders of Sex Development (DSD) Associated with Sex Chromosome Abnormalities 45,X/46,XY or 45,X/46,X,+Y Variants | FARIA JUNIOR, J. A. D.; GOMES, N. L.; BATISTA, R. L.; MORAES, D. R.; SCALCO, R.; NISHI, M. Y.; JORGE, A. A. L.; ULTRA, M. A. M. S.; COSTA, E. M. F.; MENDONCA, B. B.; DOMENICE, S. |
2016 | Prospective Genetic Analysis of Patients with Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using Target Gene Panel | NAKAGUMA, M.; JORGE, A. Augusto de Lima; FUNARI, M. Ferreira de Assis; LERARIO, Marcondes A.; CARVALHO, L. Renata Silveira de; MENDONCA, B. Bilharinho de; ARNHOLD, I Jorge Prado |
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 | Isolated Growth Hormone Deficiency with Advanced Bone Age: Phenotypic Interaction between GHRH Receptor and CYP21A2 Mutations Diagnosed by Sanger and Whole Exome Sequencing | CORREA, F. A.; FRANCA, M. M.; FANG, Q.; MA, Q.; OZEL, B. A.; BACHEGA, T. A.; RODRIGUES, A.; LI, J. Z.; MENDONCA, B. B.; JORGE, A. A. L.; CARVALHO, L. R.; CAMPER, S. A.; ARNHOLD, I. J. P. |
2016 | Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel | NAKAGUMA, Marilena; JORGE, Alexander Augusto de Lima; FUNARI, Mariana Ferreira de Assis; LERARIO, Antonio Marcondes; CORREAA, Fernanda de Azevedo; CARVALHOA, Luciani Renata Silveira de; MENDONCA, Berenice Bilharinho de; ARNHOLD, Ivo Jorge Prado |
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 |
2016 | CHRONIC ADMINISTRATION OF ALBUMIN MODIFIED BY ADVANCED GLYCATION (AGE) INDUCES EXPRESSION OF PRO-FIBROTIC, PRO-APOPTOTIC AND RENIN-ANGIOTENSIN SYSTEM GENES ON RENAL TISSUE | THIEME, Karina; FABRE, Nelly Takashima; SILVA, Karolline Santana da; CATANOZI, Sergio; MONTEIRO, Maria Beatriz; MACHADO, Ubiratan Fabres; PASSARELLI, Marisa; CORREA-GIANNELLA, Maria Lucia Cardillo |
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