Patricia Norambuena

Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene

Patricia Norambuena, Joshua A. Copeland, Petra Křenková et al. · Clinical Biochemistry · 2009 · 58 citations

Genetic Analysis, Genetic Disorder, Medicine +13

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy

Jiří Bonaventura, Patricia Norambuena, Pavol Tomašov et al. · Archives of Medical Science · 2018 · 36 citations · Full text

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

Jana Paděrová, Jana Drabova, A. Holubová et al. · European Journal of Medical Genetics · 2018 · 32 citations

Autoimmune Disease, Genetic Disorder, Genetic-and Phenotypic Heterogeneity +13

Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations

Petra Křenková, T. Piskáčková, A. Holubová et al. · Journal of Cystic Fibrosis · 2012 · 22 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +9

<i>LAMP2</i> exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Filip Majer, Lenka Piherová, Martin Řeboun et al. · American Journal of Medical Genetics Part A · 2018 · 13 citations