- Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene2012 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations2010 | 2. lékařská fakulta
- Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 92006 | 2. lékařská fakulta
- The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1 beta Mutations2020 | 1. lékařská fakulta
- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | 1. lékařská fakulta
- Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK12016 | Lékařská fakulta v Hradci Králové
- Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke-Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens2013 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)2012 | 2. lékařská fakulta
- Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 32015 | 1. lékařská fakulta
- GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia2009 | 2. lékařská fakulta
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | 1. lékařská fakulta
- Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome2008 | 2. lékařská fakulta
- High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB22006 | 2. lékařská fakulta
- Deletions in the 3 ' Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome2014 | 2. lékařská fakulta