Latest Publications
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency
A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment
The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss
A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta
Cryopreserved Bovine Spermatozoal Transcript Profile as Revealed by High-Throughput Ribonucleic Acid Sequencing.
Azole susceptibility and transcriptome profiling in Candida albicans mitochondrial electron transport chain complex I mutants
