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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
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes