N Misovicová

Identification of a Novel β-Cell Glucokinase (<i>GCK</i>) Promoter Mutation (−71G&amp;gt;C) That Modulates<i>GCK</i>Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans

Daniela Gašperíková, Nicolas D. Tribble, Juraj Staník et al. · Diabetes · 2009 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for <i>INSR</i> and <i>CHN2</i>

Sara G. I. Suliman, Juraj Staník, Laura McCulloch et al. · Diabetes · 2009 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Daniela Záhoráková, R. Rosipal, Jan Hadač et al. · Journal of Human Genetics · 2007 · 25 citations

Life Sciences, Genetics, Molecular Genetics +12

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

Vilma Kaplanová, J Zeman, Hana Hansı́ková et al. · Journal of the Neurological Sciences · 2004 · 20 citations

Life Sciences, Genetics, Molecular Genetics +14

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report

Pavlína Čapková, N Misovicová, D Vrbická · Biomedical Papers · 2013 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17