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Search for publications relevant for "Sanger sequencing"
Sanger sequencing
Publication
Class
Person
Publication
Programmes
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
Direct 16S/18S rRNA Gene PCR Followed by Sanger Sequencing as a Clinical Diagnostic Tool for Detection of Bacterial and Fungal Infections: a Systematic Review and Meta-Analysis
2023 |
Second Faculty of Medicine
publication
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
2018 |
Second Faculty of Medicine
publication
The curious case of Cladonia luteoalba: No support for its distinction
2022 |
Faculty of Science
publication
Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland
2016 |
Faculty of Medicine in Pilsen
publication
Low frequency of DNMT3A mutations in pediatric AML, and the identification of the OCI-AML3 cell line as an in vitro model
2012 |
Second Faculty of Medicine
publication
Rapid classification of unknown biological material using a novel triplex assay
2017 |
Second Faculty of Medicine
publication
Comparative study of TERT gene mutation analysis on voided liquid-based urine cytology and paraffin-embedded tumorous tissue
2016 |
Faculty of Medicine in Pilsen, Central Library of Charles University
publication
A rational approach to the CNS tumors diagnostics
2022 |
Second Faculty of Medicine
publication
Comparison of molecular diagnostic approaches for the detection and differentiation of the intestinal protist Blastocystis sp. in humans
2022 |
Second Faculty of Medicine
publication
Evaluation of two approaches to genotyping major histocompatibility complex class I in a passerine-CE-SSCP and 454 pyrosequencing
2012 |
Faculty of Science
publication
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia
2016 |
Second Faculty of Medicine
publication
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family
2022 |
Central Library of Charles University
publication
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients
2017 |
Second Faculty of Medicine
publication
Congenital fibrosis of the extraocular muscles in a Czech family and its molecular genetic cause
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Exploring the environmental diversity of kinetoplastid flagellates in the high-throughput DNA sequencing era
2015 |
Faculty of Science
publication
The Quantification of Representative Sequences pipeline for amplicon sequencing: case study on within-population ITS1 sequence variation in a microparasite infecting Daphnia
2015 |
Faculty of Science
publication
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
Second Faculty of Medicine
publication
Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study
2019 |
Second Faculty of Medicine
publication
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
2020 |
First Faculty of Medicine
publication
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
2020 |
First Faculty of Medicine
publication
Potential and pitfalls of whole transcriptome-based immunogenetic marker identification in acute lymphoblastic leukemia; a EuroMRD and EuroClonality-NGS Working Group study
2021 |
Second Faculty of Medicine
publication
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
2016 |
Second Faculty of Medicine
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2023 |
Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2024 |
Faculty of Medicine in Pilsen
publication
Genetic etiology of kidney disease - overview and case studies in accordance with massive parallel sequencing
2021 |
Second Faculty of Medicine
publication
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
Second Faculty of Medicine
publication
Absence of BRAF mutation in pheochromocytoma and paraganglioma
2017 |
Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine
publication
Untangling the hidden intrathalline microalgal diversity in Parmotrema pseudotinctorum: Trebouxia crespoana sp. nov.
2018 |
Faculty of Science
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
Second Faculty of Medicine