Profil bibliographique

Núria Capdevila

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

26Publications signalées

120Citations signalées

1Affiliations récentes

Institutions déclarées

Domaines associés

Genetic Syndromes and ImprintingGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesArchaeological and Historical Studies

Publications récentes

Accès ouvert 2026 reviewOpenAlex

Micronutrition as a Therapeutic Strategy for Mitochondrial Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Fibromyalgia: A Narrative Review

Sergio Abanades, Irene Fernández, Núria Capdevila, Francisco Cardona

0 citationsNutrients

Accès ouvert 2026 preprintOpenAlex

Micronutrition as a Therapeutic Strategy to Restore Mitochondrial Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Fibromyalgia

Sergio Abanades, Irene Fernández, Núria Capdevila, Francisco Cardona

0 citationsPreprints.org

Accès ouvert 2025 preprintOpenAlex

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

Marta Sevilla-Porras, Esther Nieto-Molina, Zahara Medina, Alejandra Damián et autres

1 citationmedRxiv

Accès ouvert 2024 articleOpenAlex

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga et autres

8 citationsClinical Epigenetics

Accès ouvert 2024 articleOpenAlex

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome

Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar et autres

2 citationsFrontiers in Genetics

Accès ouvert 2023 articleOpenAlex

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

Nino Spataro, Juan Pablo Trujillo‐Quintero, Carmen Manso, Elisabeth Gabau et autres

11 citationsGenes

Accès ouvert 2022 articleOpenAlex

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, Montserrat Pujadas, Anastasios Papakonstantinou et autres

32 citationsJournal of Molecular Diagnostics

Accès ouvert 2021 articleOpenAlex

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramírez-Mallafré, Carme Brun i Gasca et autres

22 citationsPLoS ONE

Accès ouvert 2020 preprintOpenAlex

New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramírez-Mallafré, Carme Brun i Gasca et autres

0 citationsbioRxiv (Cold Spring Harbor Laboratory)

2019 articleOpenAlex

Trastornos relacionados con el gen IRF6: a propósito de un caso de síndrome de pterigium poplíteo

Núria Capdevila, Elisabeth Gabau, M. Escoda, Míriam Guitart et autres

0 citationsClínica e Investigación en Ginecología y Obstetricia

2019 articleOpenAlex

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

Raquel Corripio, Carla Tubau, Laura Martínez-Calvo, Carme Brun i Gasca et autres

25 citationsJournal of Pediatric Endocrinology and Metabolism

2019 articleOpenAlex

Nutritional Requirements in Prader Willi Syndrome Children Treated with Growth Hormone Under Two Years of Age

Raquel Corripio, Noemi Franch, Yolanda Couto, Jacobo Pérez et autres

0 citations58th Annual ESPE Meeting (ESPE 2019)

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