Iva Sakmaryová

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 145 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Spectrum and frequencies of mutations in the <i>GJB2</i> (<i>Cx26</i>) gene among 156 Czech patients with pre‐lingual deafness

Pavel Seeman, Marcela Malíková, Dagmar Ras̆ková et al. · Clinical Genetics · 2004 · 56 citations

High prevalence of the IVS 1 + 1 G to A/<i>GJB2</i> mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of <i>GJB2</i>

Pavel Seeman, Iva Sakmaryová · Clinical Genetics · 2006 · 50 citations

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

Petra Laššuthová, Dana Šišková, Jana Haberlová et al. · Orphanet Journal of Rare Diseases · 2014 · 20 citations · Full text

GDAP1 mutations in Czech families with early-onset CMT

L. Baránková, Emílie Vyhnálková, Stephan Züchner et al. · Neuromuscular Disorders · 2007 · 19 citations

Mendelian Disorder, Genetic Disorder, Genetics +4