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mutation
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publication
Comentary on the original article: Gastric emptying in patient with type 2 diabetes mellitus and diabetes associated with mitochondrial DNA 3243 mutation using 13 C - octanoid acid breath test.
2007 |
Central Library of Charles University
publication
9th ESID Prague Spring Meeting
Publication without faculty affiliation
publication
Comentary on the original article: Gastric emptying in patient with type 2 diabetes mellitus and diabetes associated with mitochondrial DNA 3243 mutation using 13 C - octanoid acid breath test.
2007 |
Faculty of Medicine in Pilsen
publication
Comentary on the original article: Gastric emptying in patient with type 2 diabetes mellitus and diabetes associated with mitochondrial DNA 3243 mutation using 13 C - octanoid acid breath test.
2007 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Gastrointestinal stromal tumors - Summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects
2019 |
Central Library of Charles University, Second Faculty of Medicine
publication
Immunotherapy in the first line treatment of non-small cell lung cancer
2020 |
Faculty of Medicine in Pilsen
publication
S65C and other mutations in the Haemochromatosis gene in the Czech population
2005 |
Third Faculty of Medicine, Faculty of Physical Education and Sport
publication
Three novel mutations in MODY and its phenotype in three different Czech families
2010 |
Third Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Absence of BRAF mutation in pheochromocytoma and paraganglioma
2017 |
Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
publication
A database of germline p53 mutations in cancer-prone families
1998 |
Second Faculty of Medicine
publication
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
2020 |
Second Faculty of Medicine
publication
Six novel mutations in the GCK gene in MODY patients
2007 |
Third Faculty of Medicine
publication
Mutation frequence of LPL gene in patients with hyperlipoproteinemia
2001 |
Faculty of Physical Education and Sport
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First Faculty of Medicine
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
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
Second Faculty of Medicine
publication
Thrombopgilic mutation by women with serious pregnancy complications
2012 |
Publication without faculty affiliation
publication
Congenital muscular dystrophies
2012 |
Second Faculty of Medicine
publication
Detection of Various Mutations in KRAS Gene on a Commercial Chip-CE Instrument
2008 |
Faculty of Science
publication
CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
2013 |
Second Faculty of Medicine
publication
Paraganglioma in a 13-year-old girl: a novel SDHB gene mutation in the family?
2010 |
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
AML-associated mutation of nucleophosmin compromises its interaction with nucleolin
2018 |
Central Library of Charles University
publication
Unusual cause of stroke: CADASIL with novel mutation in Czech patient
2006 |
First Faculty of Medicine, Third Faculty of Medicine
publication
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest
2009 |
First Faculty of Medicine
publication
Clinical significance of heterozygotic mutations of the HFE gene in chronic hepatitis C
2007 |
Third Faculty of Medicine
publication
Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.
2010 |
First Faculty of Medicine
publication
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene
1997 |
Second Faculty of Medicine
publication
Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors
2010 |
Central Library of Charles University
publication
Analysis of KERA in four families with cornea plana identifies two novel mutations
2018 |
First Faculty of Medicine