- Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-Dependent clotting factors (FMFD) to chromosome 162004 | Ústřední knihovna
- Anderson - Fabry Disease Homozygosity: Rare Case of Late-Onset VariantPublikace bez příslušnosti k fakultě
- Hypophosphatasia due to uniparental disomy2015 | 2. lékařská fakulta
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity2001 | Ústřední knihovna
- Severe Haemophilia A Patient with Factor V Leiden Homozygosity Associated with Portal Vein Thrombosis and Myocardial InfarctionPublikace bez příslušnosti k fakultě
- Severe haemophilia A patient with factor V Leiden homozygosity associated with portal vein thrombosis and myocardial infarctionPublikace bez příslušnosti k fakultě
- Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity2000 | Ústřední knihovna
- Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 162002 | Ústřední knihovna
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | 2. lékařská fakulta, Ústřední knihovna
- The extinct Sicilian wolf shows a complex history of isolation and admixture with ancient dogs2023 | Ústřední knihovna, Přírodovědecká fakulta
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia2012 | Lékařská fakulta v Plzni
- A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe2013 | 2. lékařská fakulta
- Reconstructing the Population History of European Romani from Genome-wide Data2012 | 2. lékařská fakulta
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia2019 | 1. lékařská fakulta
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | 2. lékařská fakulta
- Sérové hladiny bilirubinu a riziko Crohnovy choroby2012 | 1. lékařská fakulta
- Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia2005 | 1. lékařská fakulta, Ústřední knihovna
- Cytokine gene polymorphisms and high-resolution-computed tomography score in idiopathic pulmonary fibrosis2007 | Ústřední knihovna
- The Relationship Between Serum Bilirubin and Crohn's Disease2014 | 1. lékařská fakulta, 2. lékařská fakulta, Farmaceutická fakulta v Hradci Králové
- Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene2013 | Lékařská fakulta v Plzni
- HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2)2012 | 2. lékařská fakulta
- Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations2006 | 2. lékařská fakulta
- Mixed-sex offspring produced via cryptic parthenogenesis in a lizard2020 | Přírodovědecká fakulta
- Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism1998 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene1997 | 2. lékařská fakulta
- ATM and TGFB1 genes polymorphisms in prediction of late complications of chemoradiotherapy in patients with locally advanced cervical cancer2014 | Lékařská fakulta v Hradci Králové
- Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy2012 | Ústřední knihovna, 3. lékařská fakulta
- Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study2021 | 1. lékařská fakulta, 3. lékařská fakulta, Matematicko-fyzikální fakulta
- Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity2013 | 2. lékařská fakulta
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 32016 | 1. lékařská fakulta, 2. lékařská fakulta