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List of works by Emma M Clement

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

scientific article published on 5 July 2016

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

scientific article published on 07 February 2017

Differential diagnosis of congenital muscular dystrophies

scientific article published on 03 December 2007

Dystroglycanopathies: coming into focus ⬇️

scientific article published on March 11, 2011

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

scientific article published in September 2011

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

scientific article published on 06 March 2010

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

scientific article published in September 2011

Natural history of Ullrich congenital muscular dystrophy.

scientific article published on July 2009

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

scientific article published on 12 April 2019

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome

scientific article published on 01 August 2019

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

scientific article published on 26 July 2018

Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation

scientific article published in 2022

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

scientific article published on 03 April 2012

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

scientific article published on 26 July 2016

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement

scientific article published on 15 March 2019

Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea

scientific article published in 2022

The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns

scientific article published in 2022

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