11 research outputs found
Targeted next generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome
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Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve
No full textCompound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
No full textThe role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis
No full textGenetic mutation analysis in Japanese patients with non-syndromic congenital heart disease
No full textAltered DNA methylation indicates an oscillatory flow mediated epithelial-to-mesenchymal transition signature in ascending aorta of patients with bicuspid aortic valve
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Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies
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