Concepedia

Linda De Meırleır

LD

79

Publications

5.2K

Citations

38

H-Index

1989

Active since

Affiliations

Vrije Universiteit Brussel(Current)

Universitair Ziekenhuis Brussel

Ghent University Hospital

Children's Memorial Health Institute

Radboud University Nijmegen

Linda De Meırleır is an author at Vrije Universiteit Brussel specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

1989–2019

79

Publications

79

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 281 citations

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni et al. · Orphanet Journal of Rare Diseases · 2014 · 243 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

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