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Search for publications relevant for "Massively parallel sequencing"
Massively parallel sequencing
Publication
Class
Person
Publication
Programmes
publication
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
2019 |
First Faculty of Medicine, Third 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
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
2023 |
First Faculty of Medicine
publication
Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site
2016 |
Second Faculty of Medicine
publication
Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families
2018 |
Second Faculty of Medicine
publication
Genetic etiology of kidney disease - overview and case studies in accordance with massive parallel sequencing
2021 |
Second Faculty of Medicine
publication
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
2013 |
First Faculty of Medicine
publication
Laboratory testing for the presence of minimal residual disease using DNA-based RQ-PCR for clonal rearrangements of Ig/TCR defined by PCR or massive parallel sequencing (NGS)
Publication without faculty affiliation
publication
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing
2018 |
Second Faculty of Medicine
publication
Modeling cancer driver events in vitro using barrier bypass-clonal expansion assays and massively parallel sequencing
2017 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Next-generation sequencing
2013 |
Second Faculty of Medicine
publication
New biological and genetic classification and therapeutically relevant categories in childhood B-cell precursor acute lymphoblastic leukemia
2018 |
Second Faculty of Medicine
publication
Distribution of SARS-CoV-2 Lineages in the Czech Republic, Analysis of Data from the First Year of the Pandemic
2021 |
Second Faculty of Medicine, Faculty of Science
publication
Virus genotyping by massive parallel amplicon sequencing: adenovirus and enterovirus in the Norwegian MIDIA study
2019 |
Second Faculty of Medicine
publication
Comparison of standard capillary electrophoresis based genotyping method and ForenSeq DNA Signature Prep kit (Illumina) on a set of challenging samples
2017 |
Second Faculty of Medicine
publication
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
2017 |
Second Faculty of Medicine
publication
Benefits of targeted sequencing in noninvasive prenatal testing
2017 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Localized mosaic neurofibromatosis type 1
2022 |
Second Faculty of Medicine
publication
Complete mitochondrial genome of the Ukrainian nine-spined stickleback Pungitius platygaster (Gasterosteiformes, Gasterosteidae)
2016 |
Faculty of Science, Central Library of Charles University
publication
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
2019 |
Second Faculty of Medicine
publication
IDH1 and IDH2 mutations in patients with acute myeloid leukemia: Suitable targets for minimal residual disease monitoring?
2018 |
Faculty of Medicine in Hradec Králové
publication
Progress in forensic bone DNA analysis: lessons learned from ancient DNA
2021 |
Faculty of Science
publication
Progress in forensic bone DNA analysis: Lessons learned from ancient DNA
2021 |
Second Faculty of Medicine, Faculty of Science
publication
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications
2017 |
Second Faculty of Medicine
publication
Recent developments in genetics and medically assisted reproduction: from research to clinical applications
2018 |
Second Faculty of Medicine
publication
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
2016 |
Second Faculty of Medicine
publication
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
2018 |
Second Faculty of Medicine
publication
Whole genome amplification induced bias in the detection of KRAS-mutated cell populations during colorectal carcinoma tissue testing
2015 |
Second Faculty of Medicine
publication
POLRMT mutations impair mitochondrial transcription causing neurological disease
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport