Stanislava Koloušková

Recessive mutations in the <i>INS</i> gene result in neonatal diabetes through reduced insulin biosynthesis

Intza Garin, Emma L. Edghill, İldem Akerman et al. · Proceedings of the National Academy of Sciences · 2010 · 209 citations · Full text

Medicine, Endocrinology, Genetics +17

35th Annual Meeting of the European Association for the Study of Diabetes

Arne Melander, Jonny Olsson, Gunnar Lindberg et al. · Diabetologia · 1999 · 86 citations

Medicine, Endocrinology, Internal Medicine +11

Muscle functions and bone strength are impaired in adolescents with type 1 diabetes

Klára Maratová, Ondřej Souček, Jana Matysková et al. · Bone · 2017 · 75 citations

Medicine, Endocrinology, Pediatrics +16

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH

Lukáš Plachý, Veronika Strakova, Lenka Elblová et al. · The Journal of Clinical Endocrinology & Metabolism · 2019 · 70 citations · Full text

Medicine, Genetics, Pediatrics +17

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Štěpánka Průhová, Petra Dušátková, Zdenĕk Šumnı́k et al. · Pediatric Diabetes · 2010 · 66 citations

Medicine, Genetics, Molecular Genetics +7