Johannes Kristian Ploos van Amstel
Utrecht University(NL)University Medical Center Utrecht(NL)University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Vascular Anomalies and Treatments, Tracheal and airway disorders, Prenatal Screening and Diagnostics, Iron Metabolism and Disorders, Pulmonary Hypertension Research and Treatments
Most-Cited Works
- → Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies(2013)160 cited
- → The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis(2004)158 cited
- → Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome(2010)147 cited
- → Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients(2004)111 cited
- → Earliest gestational age for fetal sexing in cell‐free maternal plasma(2003)96 cited
- → Isolated and contiguous glycerol kinase gene disorders: A review(2000)71 cited
- → Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia