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full mutation
Person
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Person
Publication
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MUDr. Jaroslav Kotlas
Academic staff at First Faculty of Medicine
37 publications
Publications
publication
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers
2019 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
2019 |
First Faculty of Medicine
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
First Faculty of Medicine
publication
Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance
2019 |
First Faculty of Medicine
publication
Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic
2019 |
First Faculty of Medicine
publication
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report
2018 |
First Faculty of Medicine
publication
GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
2017 |
Publication without faculty affiliation
publication
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
2013 |
First Faculty of Medicine
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First Faculty of Medicine
publication
Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene
2010 |
First Faculty of Medicine
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