Yerai Vado
Gasteiz / Vitoria, PV, Spain
Last Updated: 09/26/2026
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Found 10 publications
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Journal: European journal of endocrinology
Published: December 06, 2024
Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).
Journal: Frontiers in endocrinology
Published: October 02, 2024
Genetic counselling in the era of next generation sequencing.
Journal: Anales de pediatria
Published: February 27, 2024
Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.
Journal: Frontiers in endocrinology
Published: September 27, 2022
Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival period.
Journal: European journal of neurology
Published: May 04, 2021
Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells.
Journal: Pharmaceutics
Published: March 30, 2021
Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.
Journal: Genes
Published: November 02, 2020
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
Journal: BMC medical genomics
Published: June 27, 2018
Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation.
Journal: Revista espanola de cardiologia (English ed.)
Published: November 15, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026