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Hledat publikace relevantní k dotazu "genomic rearrangements"
genomic rearrangements
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publication
Nová komplexní genomová přestavba genu BRCA1
2008 |
1. lékařská fakulta
publication
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
2006 |
2. lékařská fakulta
publication
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
2015 |
2. lékařská fakulta
publication
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
2010 |
2. lékařská fakulta
publication
Oxidative Stress of Burkholderia cenocepacia Induces Insertion Sequence-Mediated Genomic Rearrangements That Interfere with Macrorestriction-Based Genotyping
2010 |
2. lékařská fakulta
publication
.: Skrínink genomických přestaveb genů BRCA1 a BRCA2 u vysoce rizikových pacientek pro karcinomy prsu/ovaria v české populaci: vysoký podíl populačně specifických alterací v genu BRCA 1.
2010 |
1. lékařská fakulta
publication
Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements
2021 |
1. lékařská fakulta
publication
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
2019 |
2. lékařská fakulta
publication
Fine tuning of surface CRLF2 expression and its associated signaling profile in childhood B-cell precursor acute lymphoblastic leukemia
2015 |
2. lékařská fakulta
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
1. lékařská fakulta
publication
Hodnocení komplexních karyotypů metodou array komparativní genomovou hybridizací
2010 |
1. lékařská fakulta
publication
Chromosome divergence during evolution of the tetraploid clawed frogs, Xenopus mellotropicalis and Xenopus epitropicalis as revealed by Zoo-FISH
2017 |
Přírodovědecká fakulta
publication
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
2009 |
1. lékařská fakulta
publication
Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci
2010 |
2. lékařská fakulta
publication
PALB2 jako další kandidátní gen pro genetické testování u pacientů s hereditárním karcinomem prsu v České republice
2016 |
1. lékařská fakulta
publication
Nuclear NR4A3 Immunostaining Is a Specific and Sensitive Novel Marker for Acinic Cell Carcinoma of the Salivary Glands
2019 |
Lékařská fakulta v Plzni
publication
Spitz Tumor With SQSTM1::NTRK2 Fusion: A Clinicopathological Study of 5 Cases
2023 |
Lékařská fakulta v Plzni
publication
The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
2013 |
1. lékařská fakulta
publication
Global changes in gene expression associated with phenotypic switching of wild yeast
2014 |
Přírodovědecká fakulta
publication
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma
2014 |
Lékařská fakulta v Plzni
publication
Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated, and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions
2020 |
2. lékařská fakulta, Lékařská fakulta v Plzni