A Santavá

Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)

A Santavá, Jiřina Zapletalová, Kamila Michálková et al. · American Journal of Medical Genetics · 1994 · 26 citations

Glomerular Disease, Clinical Symptoms, Vasculitis +20

A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia

Zuzana Mušová, Michaela Kaiserová, Eva Kriegová et al. · The Cerebellum · 2013 · 21 citations

Molecular Neuroscience, Mendelian Disorder, Genetic Disorder +7

MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism

Pavlína Čapková, Josef Srovnal, Zuzana Capkova et al. · PeerJ · 2019 · 13 citations · Full text

Refined fluorescent STR quantification of cell‐free fetal DNA during pregnancy in physiological and Down syndrome fetuses

Radek Vodička, Radek Vrtěl, Ladislav Dušek et al. · Prenatal Diagnosis · 2008 · 12 citations

SUCCESSFUL CHILDBIRTH IN A PATIENT WITH CHRONIC MYELOGENOUS LEUKEMIA TREATED WITH IMATINIB MESYLATE DURING EARLY PREGNANCY

Ivana Skoumalová, Jana Vondráková, Peter Rohoň et al. · Biomedical Papers · 2008 · 11 citations · Full text