Emma Clement

Emma Clement

UNVERIFIED PROFILE

Are you Emma Clement?   Register this Author

Register author
Emma Clement

Emma Clement

Publications by authors named "Emma Clement"

Are you Emma Clement?   Register this Author

18Publications

818Reads

10Profile Views

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Eur J Endocrinol 2019 May 1. Epub 2019 May 1.

S Kummer, Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital Duesseldorf, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-19-0119DOI Listing
May 2019

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

Horm Res Paediatr 2019 Mar 15:1-7. Epub 2019 Mar 15.

Department of Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000496545DOI Listing
March 2019

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

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

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

Sci Signal 2016 07 5;9(435):ra68. Epub 2016 Jul 5.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London SE1 1UL, UK. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 9RX, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scisignal.aad9813DOI Listing
July 2016

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

Muscle Nerve 2011 Sep;44(3):388-92

Dubowitz Neuromuscular Centre, Institute of Child Health, University College, 30 Guilford Street, London WC1N 1EH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.22068DOI Listing
September 2011

Dystroglycanopathies: coming into focus.

Curr Opin Genet Dev 2011 Jun 11;21(3):278-85. Epub 2011 Mar 11.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health and the Great Ormond Street Hospital for Children, Guilford Street, University College London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gde.2011.02.001DOI Listing
June 2011

Differential diagnosis of congenital muscular dystrophies.

Eur J Paediatr Neurol 2008 Sep 3;12(5):371-7. Epub 2007 Dec 3.

Department of Neurology, University Children's Hospital Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2007.10.002DOI Listing
September 2008

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Arch Neurol 2008 Jan;65(1):137-41

Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College London, Du Cane Road, London W12 ONN, England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2007.2DOI Listing
January 2008