Latest Physician Education Resources
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