Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
Peeters U et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
Kassem HSh et al.
Journal of Cardiovascular Translational Research, 2013
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