Intza Garin

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

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

Eduardo Fernández‐Rebollo, Beatriz Lecumberri, Intza Garin et al. · European Journal of Endocrinology · 2010 · 107 citations

Life Sciences, Genetics, Molecular Genetics +17

Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

Franck Court, Álex Martín-Trujillo, Valeria Romanelli et al. · Human Mutation · 2013 · 100 citations

Life Sciences, Genetics, Molecular Genetics +17

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

Francesca Marta Elli, Agnès Linglart, Intza Garin et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 86 citations · Full text

Life Sciences, Endocrinology, Genetics +13

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

Nadia Ayasreh, Gemma Bullich, Rosa Miquel et al. · American Journal of Kidney Diseases · 2018 · 72 citations

Medicine, Nephrology, Pathology +13