Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases ; volume:14 ; number:1 ; day:20 ; month:11 ; year:2024 ; pages:1-11 ; date:12.2024
Scientific reports ; 14, Heft 1 (20.11.2024), 1-11, 12.2024
- Creator
-
Slaba, Katerina
Pokorna, Petra
Jugas, Robin
Palova, Hana
Prochazkova, Dagmar
Aulicka, Stefania
Spanelova, Klara
Danhofer, Pavlina
Horak, Ondrej
Tuckova, Jana
Kleiblova, Petra
Gaillyova, Renata
Hrunka, Matej
Jouza, Martin
Pinkova, Blanka
Papez, Jan
Konecna, Petra
Zidkova, Jana
Stourac, Petr
Sterba, Jaroslav
Demlova, Regina
Demlova, Eva
Jabandziev, Petr
Slaby, Ondrej
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-024-79872-4
- URN
-
urn:nbn:de:101:1-2502062123403.941178755749
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:21 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Slaba, Katerina
- Pokorna, Petra
- Jugas, Robin
- Palova, Hana
- Prochazkova, Dagmar
- Aulicka, Stefania
- Spanelova, Klara
- Danhofer, Pavlina
- Horak, Ondrej
- Tuckova, Jana
- Kleiblova, Petra
- Gaillyova, Renata
- Hrunka, Matej
- Jouza, Martin
- Pinkova, Blanka
- Papez, Jan
- Konecna, Petra
- Zidkova, Jana
- Stourac, Petr
- Sterba, Jaroslav
- Demlova, Regina
- Demlova, Eva
- Jabandziev, Petr
- Slaby, Ondrej
- SpringerLink (Online service)
Other Objects (12)
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity
Whole-exome sequencing of a pedigree segregating asthma
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
Genomic alterations in gastric cancers discovered via whole-exome sequencing
WEP: a high-performance analysis pipeline for whole-exome data
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity
Whole-exome sequencing of a pedigree segregating asthma
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
Genomic alterations in gastric cancers discovered via whole-exome sequencing
WEP: a high-performance analysis pipeline for whole-exome data
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity
Whole-exome sequencing of a pedigree segregating asthma
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
Genomic alterations in gastric cancers discovered via whole-exome sequencing
WEP: a high-performance analysis pipeline for whole-exome data
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation