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germline
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publication
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations
2010 |
Central Library of Charles University
publication
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations
2010 |
Faculty of Medicine in Pilsen
publication
Mendelian nightmares: The germline-restricted chromosome of songbirds
2022 |
Faculty of Science
publication
Rare deleterious germline variants and risk of lung cancer
2021 |
Second Faculty of Medicine
publication
Overview on population screening for carriers with germline BRCA mutation in China
2022 |
Faculty of Medicine in Pilsen
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
Faculty of Medicine in Pilsen, First Faculty of Medicine, Faculty of Science
publication
Double germline mutations in the RET proto-oncogene in MEN 2A and MEN 2B kindreds
2006 |
Second Faculty of Medicine
publication
CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate
2020 |
First Faculty of Medicine
publication
Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
2006 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
2006 |
Central Library of Charles University, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, First Faculty of Medicine
publication
A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient
2015 |
First Faculty of Medicine
publication
Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer
2009 |
Second Faculty of Medicine
publication
Micro Germline-Restricted Chromosome in Blue Tits: Evidence for Meiotic Functions
2023 |
Faculty of Science
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
First Faculty of Medicine
publication
Germline-restricted chromosome shows remarkable variation in size among closely related passerine species
2022 |
Faculty of Science
publication
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
2020 |
Faculty of Medicine in Pilsen
publication
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer
2021 |
Faculty of Medicine in Pilsen
publication
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations
2005 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer
2022 |
Faculty of Medicine in Pilsen
publication
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen
publication
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
2023 |
First Faculty of Medicine
publication
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency
2022 |
Second Faculty of Medicine
publication
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
2023 |
First Faculty of Medicine
publication
Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age
2007 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Germline mutation in the TP53 gene in uveal melanoma
2018 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours
1998 |
Second Faculty of Medicine
publication
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023 |
Central Library of Charles University, First Faculty of Medicine
publication
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
2021 |
First Faculty of Medicine
publication
A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology
2009 |
Faculty of Medicine in Pilsen, First Faculty of Medicine
publication
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes
2020 |
Central Library of Charles University, First Faculty of Medicine