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Mutational analysis
Publication
Class
Person
Publication
Programmes
publication
Molecular-pathologic and genetic diagnostics of limb girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in the Czech Republic
2004 |
Second Faculty of Medicine
publication
The DNA mutational analysis performed by the temperaturegradient gel electrophoresis in the population of infertile women
Publication without faculty affiliation
publication
Controversial impact of mutational analysis on thyroid fine-needle aspiration biopsies - pilot Study
2018 |
Faculty of Medicine in Hradec Králové
publication
The SCN1A gene analysis in patients with Febrile seizures
2006 |
Second Faculty of Medicine
publication
PAX 5 and Shb expression, P53 mutation analysis and P53 expression in superficial bladder cancer
2003 |
Faculty of Physical Education and Sport
publication
The expression of PAX5, p53 immunohistochemistry and p53 mutation analysis in superficial bladder carcinoma tissue. Correlation with pathological findings and clinical outcome
2003 |
Second Faculty of Medicine
publication
Mutation analysis in Bartter and Gitelman syndrome in Czech republic
Publication without faculty affiliation
publication
Mutation analysis of ATP7A and ATP7B
Publication without faculty affiliation
publication
Cutaneous hidradenocarcinoma: A clinicopathological, immunohistochemical, and molecular biologic study of 14 cases, including Her2/neu gene expression/amplification, TP53 gene mutation analysis, and t(11;19) translocation
2009 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Mutation analysis of TNNT gene in Czech patients with hypertrophic cardiomyopathy
2003 |
Faculty of Science
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Comparative study of TERT gene mutation analysis on voided liquid-based urine cytology and paraffin-embedded tumorous tissue
2016 |
Faculty of Medicine in Pilsen, Central Library of Charles University
publication
Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
2011 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
2011 |
Second Faculty of Medicine
publication
BRCA1 and BRCA2 mutation analysis in Czech brest and ovarian c ancer families
Publication without faculty affiliation
publication
Mutation analysis in patients with gitelman's syndrome
2006 |
First Faculty of Medicine
publication
Mutation analysis of MECP2 gene in patients with Rett syndrome from Czech and Slovak Republics
Publication without faculty affiliation
publication
Mutation analysis in Czech patients with porphyria variegata
Publication without faculty affiliation
publication
Prognostic value of p53 mutation analysis in patients with superficial
Publication without faculty affiliation
publication
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
2008 |
Second Faculty of Medicine
publication
The mutation analysis of gene BRCA 1 in families with genetic risk of breast and ovarian carcinoma
2000 |
First Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
First Faculty of Medicine
publication
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients
2007 |
First Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
Faculty of Physical Education and Sport
publication
Mutation analysis of the genes coding for fluoropyrimidines' catabolizing enzymes in prediction of fluoropyrimidines-associated toxicity in cancer patients
Publication without faculty affiliation
publication
Mutation analysis of APC and MYH gene in FAP families
Publication without faculty affiliation
publication
Mutation analysis of the MYH gene in Czech FAP patients
Publication without faculty affiliation
publication
Mutation analysis of the MECP2 gene in patiens with Rett syndrome
Publication without faculty affiliation
publication
Mutation analysis of the MECP2 gene in patients with Rett syndrome
Publication without faculty affiliation
publication
Mutation Analysis in Families with X-ALD and OTC Deficiency (1)
Publication without faculty affiliation
publication
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia
2007 |
Second Faculty of Medicine