Albertien M. van Eerde

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

Albertien M. van Eerde, Xueping Fan, Fabiola Quintero‐Rivera et al. · The American Journal of Human Genetics · 2007 · 214 citations · Full text

Medicine, Clinical Sciences, Urology +10

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska et al. · Journal of Hepatology · 2010 · 206 citations · Full text

Education, Pathobiology, Diagnostic Assessment +1

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Anna Köttgen, Émilie Cornec-Le Gall, Jan Halbritter et al. · Kidney International · 2022 · 187 citations · Full text

Life Sciences, Genetics, Nephrology +17

An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International

Roman‐Ulrich Müller, A. Lianne Messchendorp, Henrik Birn et al. · Nephrology Dialysis Transplantation · 2021 · 132 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14