Nuria Capdevila
Barcelona, CT 08036, Spain
Last Updated: 09/26/2026
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Found 8 publications
Micronutrition as a Therapeutic Strategy for Mitochondrial Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Fibromyalgia: A Narrative Review.
Journal: Nutrients
Published: July 08, 2026
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Journal: Clinical epigenetics
Published: October 12, 2023
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.
Journal: Frontiers in genetics
Published: September 08, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.
Journal: Genes
Published: February 16, 2023
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Journal: PloS one
Published: November 10, 2020
Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 08, 2018
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.
Journal: Molecular genetics & genomic medicine
Published: July 02, 2018
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Journal: BMC medical genetics
Published: February 28, 2017
Showing 1-8 of 8
Last Updated: 09/26/2026