Filip Fencl

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

Filip Fencl, Květa Bláhová, Karl P. Schlingmann et al. · European Journal of Pediatrics · 2012 · 59 citations

Life Sciences, Genetics, Pediatrics +13

Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene

Barbora Obermannová, Karolína Banghová, Zdenĕk Šumnı́k et al. · European Journal of Pediatrics · 2008 · 51 citations

Medicine, Genetics, Molecular Genetics +16

Homozygous<b><i>EXOSC3</i></b>Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Jaroslava Paulasová Schwabová, Dana Šafka Brožková, B. Petrák et al. · Journal of Neurogenetics · 2013 · 45 citations

Life Sciences, Genetics, Molecular Genetics +14

Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease

Filip Fencl, J Janda, Květa Bláhová et al. · Pediatric Nephrology · 2009 · 39 citations

Medicine, Genetics, Pediatrics +13

Recurrence of Nephrotic Proteinuria in Children With Focal Segmental Glomerulosclerosis After Renal Transplantation Treated With Plasmapheresis and Immunoadsorption: Case Reports

Filip Fencl, Eva Šimková, Karel Vondrák et al. · Transplantation Proceedings · 2007 · 26 citations

Medicine, Nephrology, Pediatrics +17