ESPE Abstracts Search

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Molecular Characterization of a Novel Non-stop KCNJ11 Mutation Associated with a Dual Focal and Diffuse Hyperinsulinaemic Hypoglycaemia Phenotype | ESPE2015
Ved Bhushan Arya; Qadeer Aziz; Sarah E Flanagan; Sian Ellard; Andrew Tinker; Khalid Hussain
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-103.htm
Published: 2015-08-26

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Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum | ESPE2016
Alexandra Gkourogianni; Melissa Andrew; Melissa Crocker; Nancy Dunbar; Alexander Jorge; Stephen Lafranchi; Seema Lalani; Jan Leb
http://abstracts.eurospe.org/hrp/0086/hrp0086fc14.1.htm
Published: 2016-08-19

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Novel Heterozygous ACAN Mutations in Short Stature: Expanding the Clinical Spectrum | ESPE2015
Lucia Sentchordi; Jimena Barraza; Carlos Ivan Rivera; M. Victoria Marcos; M. Consuelo Sanchez; Elena Vallespin; Angela del Pozo;
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-468.htm
Published: 2015-08-26