Disease: Patterson Stevenson syndrome
- A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
- A MIXED METHODS APPROACH TO TAILORING EVIDENCE-BASED GUIDANCE FOR ANTIBIOTIC STEWARDSHIP TO ONE MEDICAL SYSTEM
- A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome
- Awareness about Patterson syndrome among dental students
- Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature
- Development of a Definition of Postacute Sequelae of SARS-CoV-2 Infection
- Effect of Hydrocortisone on Mortality and Organ Support in Patients With Severe COVID-19: The REMAP-CAP COVID-19 Corticosteroid Domain Randomized Clinical Trial
- Efficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico
- Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth
- Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
- Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing
- Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome
- Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease
- Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome
- The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
- The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
- The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions
- Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes
- What does the evidence say about the Mediterranean diet?