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disease-causing mutations
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publication
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
First Faculty of Medicine
publication
Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
First Faculty of Medicine
publication
Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue
2021 |
Central Library of Charles University, Faculty of Science
publication
The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria
2010 |
First Faculty of Medicine
publication
Genetic variation screening of TNNT2 Gene in a cohort of patients with hypertrophic and dilated cardiomyopathy
2012 |
First Faculty of Medicine
publication
Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis
2021 |
Second Faculty of Medicine
publication
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Genetic Testing in the Management of Relatives of Patients with Hypertrophic Cardiomyopathy
2014 |
Central Library of Charles University, Third Faculty of Medicine
publication
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation
2012 |
First Faculty of Medicine
publication
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 ratios
2014 |
Publication without faculty affiliation
publication
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
2015 |
First Faculty of Medicine
publication
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels
2000 |
Second Faculty of Medicine
publication
OPA1 analysis in an international series of probands with bilateral optic atrophy
2017 |
First Faculty of Medicine
publication
Prevalence of mutations in AGPAT2 among human lipodystrophies
2003 |
Second Faculty of Medicine
publication
Lack of PAX4 mutations in 53 Czech MODYX families
2010 |
Second Faculty of Medicine
publication
Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy
2008 |
Publication without faculty affiliation
publication
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency
2016 |
First Faculty of Medicine
publication
Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX
2022 |
First Faculty of Medicine
publication
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease
2012 |
First Faculty of Medicine
publication
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
Second Faculty of Medicine
publication
Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations
2013 |
Third Faculty of Medicine
publication
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
2011 |
First Faculty of Medicine
publication
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome
2008 |
Second Faculty of Medicine
publication
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
2018 |
First Faculty of Medicine
publication
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
2019 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
2020 |
First Faculty of Medicine
publication
SCA2 trinucleotide expansion in German SCA patients
1997 |
Second Faculty of Medicine
publication
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
2007 |
Second Faculty of Medicine
publication
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
2008 |
Second Faculty of Medicine
publication
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients
2016 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové