Clinical genetics and therapeutics

331 - Cardiomyopathy in children with mitochondrial disease: prognosis and genetic background

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330 - Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

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332 - Genetic Testing in an Unselected HCM Cohort: A Descriptive Overview
334 - Migalastat Reduces Globotriaosylceramide (GL-3) Inclusions in Renal Peritubular Capillaries in Patients With Fabry Disease: Post hoc Analyses from FACETS
337 - Compound Heterozygous Variants in IL6ST Associated with Immunodeficiency and GP130 Deficiency
338 - Primrose Syndrome: Characterizing the Pediatric Phenotype
339 - Clinical Diagnostic Exome Sequencing in Patients with Neuromuscular Disorders: Genetic Testing Challenges for Complex Conditions
345 - PGxTyper - A Computational Workflow to Automate the Identification and Annotation of Clinically Actionable PGx Variants  
346 - Overcoming the “N of 1” Problem: Novel Disease Gene Discovery in the Undiagnosed Diseases Network
347 - Utility of genomic sequencing in cases of early-onset and familial dementia
348 - A Male with 45,X with a SHOX Deletion and SRY-Bearing X Chromosome: Challenges to Management Recommendations
353 - Applying the ClinGen Gene-Disease Validity Framework to the ACMG 59 and Other Medically Actionable Genes