Jose M. Rial

Recessive mutations in the <i>INS</i> gene result in neonatal diabetes through reduced insulin biosynthesis

Intza Garin, Emma L. Edghill, İldem Akerman et al. · Proceedings of the National Academy of Sciences · 2010 · 209 citations · Full text

Medicine, Endocrinology, Genetics +17

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

David Araújo‐Vilar, Sofía Sánchez‐Iglesias, Cristina Guillín‐Amarelle et al. · Endocrine · 2014 · 48 citations · Full text

Medicine, Endocrinology, Nutrition +17

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina et al. · EBioMedicine · 2024 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Effect of recombinant growth hormone on leptin, adiponectin, resistin, interleukin-6, tumor necrosis factor-α and ghrelin levels in growth hormone-deficient children

Juan Pedro López‐Siguero, Luis Fernando López-Canti, Rafael Espino et al. · Journal of Endocrinological Investigation · 2010 · 37 citations

Medicine, Endocrinology, Nutritional Sciences +13