Publications by authors named "Emma Kivuva"

15Publications

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Clin Endocrinol (Oxf) 2016 May 4;84(5):715-9. Epub 2016 Feb 4.

Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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http://dx.doi.org/10.1111/cen.13008DOI Listing
May 2016

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

Eur J Hum Genet 2015 Mar 25;23(3):401-4. Epub 2014 Jun 25.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://www.nature.com/articles/ejhg2014120
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http://dx.doi.org/10.1038/ejhg.2014.120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205099PMC
March 2015

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

Am J Med Genet A 2014 Feb 5;164A(2):500-4. Epub 2013 Dec 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.

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http://doi.wiley.com/10.1002/ajmg.a.36287
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36287DOI Listing
February 2014

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

De Barsy syndrome: a review of the phenotype.

Clin Dysmorphol 2008 Apr;17(2):99-107

Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Gladstone Road, Exeter, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282f4a964DOI Listing
April 2008