subject area of
- A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene Journal Articles
- A risk‐factor model of epistatic interaction, focusing on autism Journal Articles
- A simplified technique for the culture of amniotic fluid cells Journal Articles
- A systematic review of genetic syndromes with obesity Journal Articles
- CHORIONIC VILLUS SAMPLING Journal Articles
- Correction of chromosomal mutation and random integration in embryonic stem cells with helper-dependent adenoviral vectors Journal Articles
- DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome Journal Articles
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Journal Articles
- Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder Journal Articles
- Human Chromosome 7: DNA Sequence and Biology Journal Articles
- Impact of Selection Bias on Estimation of Subsequent Event Risk Journal Articles
- Nonautologous gene therapy with implantable devices Journal Articles
- Parents’ Understanding of Genetics and Heritability Journal Articles
- Position Paper on “Withholding Treatment” Journal Articles
- Pulmonary Alveolar Microlithiasis Journal Articles
- Pulmonary Alveolar Microlithiasis. Journal Articles
- Recent Progress in Understanding Plasticity in Neurogenetic Disorders Journal Articles
- Redefining Disease? The Nosologic Implications of Molecular Genetic Knowledge Journal Articles
- Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification Journal Articles
- Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy Journal Articles
- The health risks of ART Journal Articles
- The use of genetic epidemiology to guide classification in child and adult psychopathology Journal Articles
- Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Journal Articles