Lv32
368 积分 2025-08-06 加入
Hemizygous SACS Variant in a Czech Patient With Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay
11天前
已完结
Novel Pathogenic Variant of ZFYVE26 in Hereditary Spastic Paraplegia
13天前
已完结
Tratamiento rehabilitador en un paciente con citrulinemia tipo I asociada a deficiencia de beta-ureidopropionasa, primer caso reportado
15天前
已关闭
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran
19天前
已完结
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy
21天前
已完结
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
21天前
已完结
Mortality Risk Associated With Truncating Founder Mutations in Titin
22天前
已完结
Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation
22天前
已关闭
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling
22天前
已完结
Titin related myopathy with ophthalmoplegia. A novel phenotype
22天前
已完结
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