Jose M. Rial
Publications by Year
Research Areas
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Regulation of Appetite and Obesity, RNA and protein synthesis mechanisms, RNA Research and Splicing, Growth Hormone and Insulin-like Growth Factors
Most-Cited Works
- → Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis(2010)208 cited
- → Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience(2014)48 cited
- → Effect of recombinant growth hormone on leptin, adiponectin, resistin, interleukin-6, tumor necrosis factor-α and ghrelin levels in growth hormone-deficient children(2010)37 cited
- → Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development(2024)36 cited
- → Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study(2025)4 cited