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 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Danyel Lee, Jérémie Le Pen, Ahmad Yatim et al. · Science · 2022 · 167 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

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 · 152 citations · Full text

Medicine, Oncology, Pathology +17

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 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 126 citations · Full text

Medicine, Endocrinology, Pharmacology +4