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