Pauline Krug
Cliniques Universitaires Saint-Luc(BE)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Metabolism and Genetic Disorders, Amino Acid Enzymes and Metabolism, Cardiac Valve Diseases and Treatments
Most-Cited Works
- → Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans(2013)226 cited
- → Clinical and Genetic Spectrum of Bartter Syndrome Type 3(2017)118 cited
- → Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations(2010)113 cited
- → Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood(2017)112 cited
- → Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability(2014)108 cited
- → Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization(2015)102 cited
- → Opsoclonus–myoclonus in children associated or not with neuroblastoma(2010)96 cited
- → Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease(2013)51 cited
- → Brain magnetic resonance imaging pattern and outcome in children with haemolytic‐uraemic syndrome and neurological impairment treated with eculizumab(2013)51 cited
- → The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies(2023)46 cited