Martina Škopková

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

<i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Martina Škopková, Friederike Hennig, Byung‐Sik Shin et al. · Human Mutation · 2017 · 81 citations · Full text

Genetics, Disease Gene Identification, Transcriptional Regulation +19

Protein Array Reveals Differentially Expressed Proteins in Subcutaneous Adipose Tissue in Obesity

Martina Škopková, Adela Penesová, Henrike Sell et al. · Obesity · 2007 · 50 citations · Full text

Subcutaneous Adipose Tissue, Metabolic Disorder, Immunology +21

Adipokine Protein Expression Pattern in Growth Hormone Deficiency Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Derangements

Jozef Ukropec, Adela Penesová, Martina Škopková et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 50 citations · Full text

Neonatal Hypoglycemia, Early-Onset Diabetes and Hypopituitarism Due to the Mutation in EIF2S3 Gene Causing MEHMO Syndrome

Juraj Staník, Martina Škopková, Daniela Staníková et al. · Physiological Research · 2018 · 34 citations · Full text

Metabolic Disorder, Endocrine Disease, Genetics +18