- Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II2017 | 1. lékařská fakulta
- Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations2008 | 2. lékařská fakulta
- MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 22006 | 2. lékařská fakulta
- A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing2010 | 2. lékařská fakulta
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis1998 | 2. lékařská fakulta
- Genotype/phenotype correlations in neuromuscular disorders1998 | 2. lékařská fakulta
- Genotype/phenotype correlations in DMD/BMD and HMSN1998 | 2. lékařská fakulta
- Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations2010 | 2. lékařská fakulta
- New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy2020 | 2. lékařská fakulta
- Korelace fenotypu a genotypu u českých pacientů s komplexem tuberózní sklerózy2016 | 2. lékařská fakulta
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta
- Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease2009 | 2. lékařská fakulta
- Genotype-phenotype correlation in children with mutations in SCO2 and a novel mutation 1518delAPublikace bez příslušnosti k fakultě
- Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion2005 | 2. lékařská fakulta
- Korelace genotypu a fenotypu u dětí s autosomálně dominantní polycystickou chorobou ledvin2009 | 1. lékařská fakulta
- The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics2001 | Lékařská fakulta v Plzni
- Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 | 2. lékařská fakulta
- Kal gene novel mutations in idiopathic hypogonadotropic hypogonadism (IHH): genotype-phenotype correlations2000 | Lékařská fakulta v Plzni
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | 3. lékařská fakulta
- Niemann-Pick diesease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group2001 | 1. lékařská fakulta
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | 2. lékařská fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery2019 | 2. lékařská fakulta
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | 1. lékařská fakulta
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | 2. lékařská fakulta
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | 2. lékařská fakulta
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA SequencingPublikace bez příslušnosti k fakultě
- Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency2016 | 1. lékařská fakulta
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015 | 2. lékařská fakulta
- MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning2016 | 1. lékařská fakulta