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Showing page 1 of results 1 - 4 of about 4 pages

100% match
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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
Published: 2015-08-26

90% match
2 hit(s)

Clinical Remission in a Patient with Congenital Hyperinsulinism due to Paternally Inherited Two Novel Mutations in KCJN11 Gene | ESPE2014
Ayse Nurcan Cebeci; Jayne Houghton; Sian Ellard
Published: 2014-08-28

40% match
2 hit(s)

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
Published: 2016-08-19

40% match
2 hit(s)

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;
Published: 2015-08-26

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