Last Posted: Sep 10, 2020
- Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan Zuhair N et al. Circulation. Genomic and precision medicine 2020 Sep - Clinical Utility of a Phenotype Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.
Mattivi Connor L et al. Circulation. Genomic and precision medicine 2020 Sep - Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.
Fahed Akl C et al. Circulation. Genomic and precision medicine 2020 Sep - Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.
Gao Yuan et al. Medicine 2020 Aug 99(34) e21797 - Clinical utility of genetic testing in patients with dilated cardiomyopathy.
Peña-Peña Maria Luisa et al. Medicina clinica 2020 Aug - Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.
Köffer Jasmin et al. International journal of legal medicine 2020 Aug - ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients.
Heliö Tiina et al. ESC heart failure 2020 Aug - Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.
Burstein Danielle S et al. Pediatric research 2020 Aug - Onset features and time to diagnosis in Friedreich's Ataxia.
Indelicato Elisabetta et al. Orphanet journal of rare diseases 2020 Aug 15(1) 198 - Machine learning based classification and diagnosis of clinical cardiomyopathies.
Alimadadi Ahmad et al. Physiological genomics 2020 Aug
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