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Gene mutations
Publication
Class
Person
Publication
Programmes
publication
The contribution to the understanding of the immunogenetic background of the embryo implantation: The detection of naturally appearing cytokine gene mutations
2005 |
Central Library of Charles University, Faculty of Medicine in Pilsen
publication
Leukemia inhibitory factor gene mutations in the population of infertile women are not restricted to nulligravid patients
2006 |
Central Library of Charles University
publication
Etiology of Osteogenesis Imperfecta: COL1A1 Gene Mutations in Czech Patients
Publication without faculty affiliation
publication
Up-to-date insight into significance of gene mutation for androgenic receptor in the pathogenesis of prostate cancer
2004 |
Third Faculty of Medicine
publication
Prevalence of heterozygous HFE gene mutation in chronic liver disease
2007 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resitant Nephrotic Syndrome Due to Podocin (NPHS2) Gene Mutation
2010 |
Second Faculty of Medicine
publication
Collagen type I gene mutations of alpha 1 chain (Col1A1) in Czech patients with Osteogenesis Imperfecta Syndrome
2003 |
Faculty of Science
publication
New fibrillin gene mutation - possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results
2009 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Comparative study of TERT gene mutation analysis on voided liquid-based urine cytology and paraffin-embedded tumorous tissue
2016 |
Central Library of Charles University, Faculty of Medicine in Pilsen
publication
Clinical characteristics of three Czech families with catecholaminergic polymorphic ventricular tachycardia and pilot results of RyR2 gene mutation analysis
2010 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
HFE gene mutations in patients with rheumatic diseases
2005 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Physical Education and Sport
publication
TP53 gene mutations are rare in nondysplastic Barrett's esophagus
2006 |
Second Faculty of Medicine
publication
Gene mutation causing asthma
2013 |
First Faculty of Medicine
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
First Faculty of Medicine
publication
Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
2003 |
Faculty of Physical Education and Sport
publication
Arginin519 -cystein COL2A1 gene mutation in czech osteoarthritis population.
2005 |
Faculty of Science
publication
The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy
1991 |
Second Faculty of Medicine
publication
Etiology of Osteogenesis Imperfecta: COL1A1 Gene Mutations in Czech Patients
2003 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias
2015 |
Second Faculty of Medicine
publication
Leigh Disease: Biochemical and Molecular Studies in Seven Children with SURF1 Gene Mutations
Publication without faculty affiliation
publication
TP53 gene mutation in Barrett´s exophagus
Publication without faculty affiliation
publication
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome
2006 |
Publication without faculty affiliation
publication
Gastrointestinal stromal tumor of the pancreas: case report with documentation of KIT gene mutation
2005 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with acquired idiopathic sideroblastic anemia
Publication without faculty affiliation
publication
Iron overload and HFE gene mutations in Czech patients with chronic liver diseases
2012 |
Third Faculty of Medicine
publication
Clinical Importance of Identification of PROP1 Gene Mutations in Children with Inherited Growth Hormone Deficiency
+1
2009 |
Faculty of Medicine in Hradec Králové
publication
Clinical Importance of Identification of PROP1 Gene Mutations in Children with Inherited Growth Hormone Deficiency
2009 |
First Faculty of Medicine
publication
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids
2013 |
First Faculty of Medicine
publication
Association of the leukemia inhibitory factor gene mutation and the antiphospholipid antibodies in the peripheral blood of infertile women
2007 |
Central Library of Charles University, Faculty of Medicine in Pilsen