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A 7-Year Update Report of a National, Interdisciplinary Endeavour to Improve Outcomes for Children and Young People Under 19 Years of Age with Hypothalamic Pituitary Axis Tumours (HPAT) Using Multi-site Video Conferencing | ESPE2018
Katja Freund; Neha Malhorta; Antonia Dastamani; Neil Dorward; Kristian Aquilina; Yen-Ching Chang; Kshitij Mankad; Benedetta Pett
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p194.htm
Published: 2018-08-28

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The Diagnostic Yield of a Targeted Next Generation Sequencing Panel in Children with Short Stature of Undefined Aetiology | ESPE2018
Reena Perchard; Philip G Murray; Georgina L Highton; Andrew J Whatmore; Peter E Clayton
http://abstracts.eurospe.org/hrp/0089/hrp0089fc15.1.htm
Published: 2018-08-28

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A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype | ESPE2015
Philip G Murray; Charlottle L Alston; Langping He; Robert McFarland; Julian PH Shield; Andrew A M Morris; Ellen Crushell; Joanne
http://abstracts.eurospe.org/hrp/0084/hrp0084fc4.2.htm
Published: 2015-08-26

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