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