Ricardo Gracía

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

Begoña Ezquieta, Antonio Oliver, Ricardo Gracía et al. · Human Genetics · 1995 · 120 citations

Biology, Somatic Variant, Spanish Population +10

Hyperinsulinism of Infancy: Novel ABCC8 and KCNJ11 Mutations and Evidence for Additional Locus Heterogeneity

Sharona Tornovsky, Ana Crane, Karen E. Cosgrove et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 86 citations

Primary Acid-Labile Subunit Deficiency due to Recessive<i>IGFALS</i>Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia

Karen E. Heath, Jesús Argente, Vicente Barrios et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 70 citations · Full text

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel <i>SHOX</i> enhancer

Sara Benito‐Sanz, José Luís Royo, Eva Barroso et al. · Journal of Medical Genetics · 2012 · 67 citations

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Víctor Martínez‐Glez, Valeria Romanelli, María Ángeles Mori et al. · American Journal of Medical Genetics Part A · 2010 · 66 citations