Alena Puchmajerová

Pontocerebellar hypoplasia type 1

Sabine Rudnik‐Schöneborn, Jan Senderek, Joanna C. Jen et al. · Neurology · 2013 · 105 citations · Full text

Medicine, Neurology, Neuroscience +6

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

Oliver Bartsch, Michaela Nemecková, Eduard Kočárek et al. · American Journal of Medical Genetics Part A · 2003 · 91 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency

Peter Vasovčák, Anna Křepelová, Mirco Menigatti et al. · DNA repair · 2012 · 39 citations · Full text

Life Sciences, Genetics, Oncology +17