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rare mutation
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publication
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G
2020 |
Second Faculty of Medicine
publication
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
2014 |
First Faculty of Medicine
publication
A 3-bp Deletion VK600-1E in the BRAF Gene Detected in a Young Woman with Papillary Thyroid Carcinoma
2015 |
Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University
publication
Genetic Predisposition of Human Plasma Triglyceride Concentrations
2015 |
First Faculty of Medicine
publication
A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration
2006 |
Second Faculty of Medicine
publication
Familiar Amyloid Polyneuropathy - a Case Report
2015 |
First Faculty of Medicine
publication
Autism - autism spectrum disorders
2014 |
Second Faculty of Medicine
publication
Aggressive pulmonary adenocarcinoma with new FGFR translocation and cMET mutation not responsive to crizotinib and nintedanib treatment: a case report
2020 |
Faculty of Medicine in Pilsen
publication
Real-life Effectiveness of Afatinib Versus Gefitinib in Patients With Non-small-cell Lung Cancer: A Czech Multicentre Study
2021 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
2020 |
First Faculty of Medicine
publication
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
2021 |
First Faculty of Medicine