30 documents found, page 1 of 3
Hormone resistance and short stature: a journey through the pathways of hormone...
Jorge, Alexander Augusto de Lima
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder ...
Jorge, Alexander Augusto de Lima
Genetic investigation of patients with tall stature
Jorge, Alexander Augusto de Lima
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: ...
Jorge, Alexander Augusto de Lima
A Bayesian approach to diagnose growth hormone deficiency in children: insulin-...
Jorge, Alexander Augusto de Lima
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
Jorge, Alexander Augusto de Lima
SELAdb: A database of exonic variants in a Brazilian population referred to a q...
Lerario, Antonio Marcondes; Mohan, Dipika R.; Montenegro, Luciana Ribeiro; Funari, Mariana Ferreira de Assis; Nishi, Mirian YumieOBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic polymorphisms is a challenging task. Publicly available genomic databases are useful resources to filter out common genetic variants present in the population and enabl...
Genetic causes of isolated short stature
Jorge, Alexander Augusto de Lima
IGF-1 assessed by pubertal status has the best positive predictive power for GH...
Jorge, Alexander Augusto de Lima
Multigene sequencing analysis of children born small for gestational age with i...
Jorge, Alexander Augusto de Lima