about
Natural history of Ullrich congenital muscular dystrophy.An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsRapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenDifferential diagnosis of congenital muscular dystrophiesPersistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndromeSotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem InvolvementPIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsMuscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations
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description
investigador
@es
researcher
@en
name
Emma M Clement
@en
Emma M Clement
@nl
type
label
Emma M Clement
@en
Emma M Clement
@nl
prefLabel
Emma M Clement
@en
Emma M Clement
@nl
P31
P496
0000-0002-5562-6276