Associated Papers
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-HZGGV2
Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.
Hsieh J et al.
Frontiers in Cell and Developmental Biology, 2022
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C et al.
Orphanet Journal of Rare Diseases, 2016
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Coppini R et al.
Journal of the American College of Cardiology, 2014
25524337 (PubMed )
Supplement: mmc1.pdf
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
Girolami F et al.
Journal of the American College of Cardiology, 2010
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