- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families2013 | 1. lékařská fakulta
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 1. lékařská fakulta
- Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat2016 | 1. lékařská fakulta, 3. lékařská fakulta
- 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
- Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 2. lékařská fakulta
- Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online1998 | 2. lékařská fakulta
- GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)2017 | Publikace bez příslušnosti k fakultě
- Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome2014 | 1. lékařská fakulta
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | 1. lékařská fakulta, 2. lékařská fakulta
- Novel glucokinase gene mutation in the first Macedonian family tested for MODY2017 | 2. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations2003 | 2. lékařská fakulta
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis1998 | 2. lékařská fakulta
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | 1. lékařská fakulta
- Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients2015 | 1. lékařská fakulta
- Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort2015 | 1. lékařská fakulta, 3. lékařská fakulta
- Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 212003 | 2. lékařská fakulta
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | 1. lékařská fakulta, Ústřední knihovna
- Germline and somatic genetic profiles of epithelial ovarian carcinoma patients sensitive and resistant to platinum derivatives estimated by targeted DNA sequencingPublikace bez příslušnosti k fakultě
- Congenital adrenal hyperplasia: Lessons from a multinational study2002 | 3. lékařská fakulta