Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
European Journal of Endocrinology|March 7, 2014
Insulinoma in childhood: clinical, radiological, molecular and histological aspects of nine patientsRaja Padidela, Miriam Fiest, Ved Arya, et al.
Journal of Inherited Metabolic Disease|March 19, 2020
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literatureRahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, et al.
The Canadian Journal of Cardiology|December 8, 2020
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic CardiomyopathyAlexandros Protonotarios, Andreas Brodehl, Angeliki Asimaki, et al.
Circulation. Genomic and Precision Medicine|December 19, 2018
Proteomic Analysis of the Myocardium in Hypertrophic Obstructive CardiomyopathyCaroline J Coats, Wendy E Heywood, Alex Virasami, et al.
Thorax|November 22, 2019
One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD)Steve Cunningham, Catriona Graham, Morag MacLean, et al.
Orphanet Journal of Rare Diseases|February 13, 2013
Barth syndromeSarah L N Clarke, Ann Bowron, Iris L Gonzalez, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11Gillian Rea, Tessa Homfray, Jan Till, et al.
Thorax|October 24, 2017
International management platform for children's interstitial lung disease (chILD-EU)Matthias Griese, Elias Seidl, Meike Hengst, et al.
Neurology|September 11, 2020
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort studySimona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
European Heart Journal|July 15, 2021
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathyLuis R Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, et al.
Pageof 5