Isabel Rivas-Llano
Barakaldo, PV, Spain
Last Updated: 09/26/2026
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Found 21 publications
Two Siblings With CD151-Associated Epidermolysis Bullosa Harboring a Novel Variant.
Journal: International journal of dermatology
Published: April 14, 2026
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Journal: PLoS genetics
Published: April 02, 2025
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.
Journal: Translational pediatrics
Published: February 02, 2023
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 23, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Journal: Journal of medical genetics
Published: April 12, 2022
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
Journal: Frontiers in pediatrics
Published: December 02, 2021
Novel APOB mutation in familial hypobetalipoproteinemia.
Journal: Journal of clinical lipidology
Published: July 05, 2021
Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.
Journal: Genes
Published: November 02, 2020
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: July 28, 2020
Prenatal and foetal autopsy findings in glutaric aciduria type II.
Journal: Birth defects research
Published: July 07, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Journal: The Journal of clinical endocrinology and metabolism
Published: January 27, 2020
Last Updated: 09/26/2026