Jan Lebl

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

Ewan R. Pearson, Štěpánka Průhová, Cees J. Tack et al. · Diabetologia · 2005 · 231 citations · Full text

Phenotypic Characteristics, Hepatology, Genetic Disorder +7

Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism

Martine Cools, J. Pleskacova, Hans Stoop et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 149 citations · Full text

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 127 citations · Full text

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carla Moran et al. · The Lancet Diabetes & Endocrinology · 2019 · 122 citations · Full text

Iodine Deficiency Disorders, Pharmacology, Mct8 Deficiency +3

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Juraj Staník, Petra Dušátková, Ondřej Cinek et al. · Diabetologia · 2013 · 117 citations

Genetic Disorder, Genetics, Molecular Biology +6