Concepedia

Mercè Bolasell

MB

Statistics

Publications

5

Citations

151

H-Index

5

Active since

2018

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Instituto de Salud Carlos III

Centre for Biomedical Network Research on Rare Diseases

Universidad Autónoma de Madrid

Institut de Recerca Sant Joan de Déu

Mercè Bolasell is an author at Hospital Sant Joan de Déu Barcelona specializing in life sciences, genetic disorders, and human genetics.

Publications per year

2018–2021

5

Publications

5

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Antonio Federico Martínez‐Monseny, Mercè Bolasell, Laura Callejón‐Póo et al. · Annals of Neurology · 2019 · 68 citations

, , +16

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Antonio Federico Martínez‐Monseny, Daniel Cuadras, Mercè Bolasell et al. · Journal of Medical Genetics · 2018 · 26 citations

, , +16

Mutation of PACS1: the milder end of the spectrum

Antonio Federico Martínez‐Monseny, Mercè Bolasell, César Arjona et al. · Clinical Dysmorphology · 2018 · 20 citations

, , +7

Okur‐Chung neurodevelopmental syndrome in a patient from Spain

Antonio Federico Martínez‐Monseny, Dídac Casas‐Alba, César Arjona et al. · American Journal of Medical Genetics Part A · 2019 · 19 citations

, , +17

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

Antonio Federico Martínez‐Monseny, Albert Edo, Dídac Casas‐Alba et al. · International Journal of Molecular Sciences · 2021 · 18 citations · Full text

, , +16

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