Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia ; volume:16 ; number:1 ; day:9 ; month:10 ; year:2021 ; pages:1-10 ; date:12.2021
Orphanet journal of rare diseases ; 16, Heft 1 (9.10.2021), 1-10, 12.2021
- Creator
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Scocchia, Alicia
Kangas-Kontio, Tiia
Irving, Melita
Hero, Matti
Saarinen, Inka
Pelttari, Liisa
Gall, Kimberly
Valo, Satu
Huusko, Johanna M.
Tallila, Jonna
Sistonen, Johanna
Koskenvuo, Juha
Alastalo, Tero-Pekka
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13023-021-02025-7
- URN
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urn:nbn:de:101:1-2021122519282239444172
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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01.03.2024, 7:13 AM CET
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Scocchia, Alicia
- Kangas-Kontio, Tiia
- Irving, Melita
- Hero, Matti
- Saarinen, Inka
- Pelttari, Liisa
- Gall, Kimberly
- Valo, Satu
- Huusko, Johanna M.
- Tallila, Jonna
- Sistonen, Johanna
- Koskenvuo, Juha
- Alastalo, Tero-Pekka
- SpringerLink (Online service)
Other Objects (12)
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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Next-generation sequencing-based detection of germline L1-mediated transductions
Inter-assay variability of next-generation sequencing-based gene panels
Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases
Next-generation sequencing-based genome and transcriptome studies of unicellular Apicomplexa and Kinetoplastida parasites
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci
Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
Current Issues of Next-Generation Sequencing-Based Circulating Tumor DNA Analysis in Colorectal Cancer
Genotyping of European Toxoplasma gondii strains by a new high-resolution next-generation sequencing-based method
Next-generation sequencing-based genetic landscape and its clinical implications for Chinese acute myeloid leukemia patients
Towards next-generation sequencing-based identification of norovirus recognition elements and microfluidic array using phage display technology
Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Next-generation sequencing-based detection of germline L1-mediated transductions
Inter-assay variability of next-generation sequencing-based gene panels
Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases
Next-generation sequencing-based genome and transcriptome studies of unicellular Apicomplexa and Kinetoplastida parasites
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci
Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
Current Issues of Next-Generation Sequencing-Based Circulating Tumor DNA Analysis in Colorectal Cancer
Genotyping of European Toxoplasma gondii strains by a new high-resolution next-generation sequencing-based method
Next-generation sequencing-based genetic landscape and its clinical implications for Chinese acute myeloid leukemia patients