- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | 1. lékařská fakulta
- Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | 1. lékařská fakulta
- Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue2021 | Ústřední knihovna, Přírodovědecká fakulta
- Intronová mutace c.903+469T>C v genu MTRR vytváří nový exon splicin enhancer vážící SF2/ASF, vede k aktivaci pseudoexonů a způsobuje homocystinurii typu cblE2010 | 1. lékařská fakulta
- Genetic variation screening of TNNT2 Gene in a cohort of patients with hypertrophic and dilated cardiomyopathy2012 | 1. lékařská fakulta
- Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis2021 | 2. lékařská fakulta
- Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2021 | 1. lékařská fakulta, 2. lékařská fakulta
- Genetic Testing in the Management of Relatives of Patients with Hypertrophic Cardiomyopathy2014 | Ústřední knihovna, 3. lékařská fakulta
- Vysoká prevalence zadní polymorfní dystrofie v České republice, nerovnoměrné vazebné mapování a datace věku mutace získané od společného předka2012 | 1. lékařská fakulta
- Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios2014 | Publikace bez příslušnosti k fakultě
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels2000 | 2. lékařská fakulta
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | 1. lékařská fakulta
- Prevalence of mutations in AGPAT2 among human lipodystrophies2003 | 2. lékařská fakulta
- Lack of PAX4 mutations in 53 Czech MODYX families2010 | 2. lékařská fakulta
- Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy2008 | Publikace bez příslušnosti k fakultě
- Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency2016 | 1. lékařská fakulta
- Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX2022 | 1. lékařská fakulta
- TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease2012 | 1. lékařská fakulta
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015 | 2. lékařská fakulta
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | 3. lékařská fakulta
- Mutace v genu DNAJC5 kodujici cysteine-string protein alfa jsou pricinou autozomalne dominantni adultni formy neuronalni ceroidni lipofuscinozy.2011 | 1. lékařská fakulta
- Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome2008 | 2. lékařská fakulta
- Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study2018 | 1. lékařská fakulta
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis2019 | 1. lékařská fakulta, 3. lékařská fakulta
- Dominantní (Kjerova) atrofie optiku asociovaná s mutacemi v OPA1 genu2020 | 1. lékařská fakulta
- SCA2 trinucleotide expansion in German SCA patients1997 | 2. lékařská fakulta
- Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation2007 | 2. lékařská fakulta
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | 2. lékařská fakulta
- RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients2016 | Ústřední knihovna, Lékařská fakulta v Hradci Králové