A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1756-994X
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing ; volume:11 ; number:1 ; day:26 ; month:7 ; year:2019 ; pages:1-11 ; date:12.2019
Genome medicine ; 11, Heft 1 (26.7.2019), 1-11, 12.2019
- Creator
-
Cao, Ye
Tokita, Mari J.
Chen, Edward S.
Ghosh, Rajarshi
Chen, Tiansheng
Feng, Yanming
Gorman, Elizabeth
Gibellini, Federica
Ward, Patricia A.
Braxton, Alicia
Wang, Xia
Meng, Linyan
Xiao, Rui
Bi, Weimin
Xia, Fan
Eng, Christine M.
Yang, Yaping
Gambin, Tomasz
Shaw, Chad
Liu, Pengfei
Stankiewicz, Pawel
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13073-019-0658-2
- URN
-
urn:nbn:de:101:1-2019121901183509793000
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:54 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
- Cao, Ye
- Tokita, Mari J.
- Chen, Edward S.
- Ghosh, Rajarshi
- Chen, Tiansheng
- Feng, Yanming
- Gorman, Elizabeth
- Gibellini, Federica
- Ward, Patricia A.
- Braxton, Alicia
- Wang, Xia
- Meng, Linyan
- Xiao, Rui
- Bi, Weimin
- Xia, Fan
- Eng, Christine M.
- Yang, Yaping
- Gambin, Tomasz
- Shaw, Chad
- Liu, Pengfei
- Stankiewicz, Pawel
- SpringerLink (Online service)
Other Objects (12)
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
The quality of financial reporting in China: An examination from an accounting restatement perspective
Improved AHP–TOPSIS model for the comprehensive risk evaluation of oil and gas pipelines
The effect of two educational technology tools on student engagement in Chinese EFL courses
Synthesis of Isonitriles from N-Substituted Formamides Using Triphenylphosphine and Iodine
A novel integrated approach based on best–worst and VIKOR methods for green supplier selection under multi-granularity extended probabilistic linguistic environment
Complex systems analysis informs on the spread of COVID-19
Chiral Quantum Materials: When Chemistry Meets Physics
Reply to the Comment on “The m6A Reader IGF2BP2 Regulates Macrophage Phenotypic Activation and Inflammatory Diseases by Stabilizing TSC1 and PPAR γ ”
Estimating private provision of public goods with heterogenous participants: A structural analysis
Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
The quality of financial reporting in China: An examination from an accounting restatement perspective
Improved AHP–TOPSIS model for the comprehensive risk evaluation of oil and gas pipelines
The effect of two educational technology tools on student engagement in Chinese EFL courses
Synthesis of Isonitriles from N-Substituted Formamides Using Triphenylphosphine and Iodine
A novel integrated approach based on best–worst and VIKOR methods for green supplier selection under multi-granularity extended probabilistic linguistic environment
Complex systems analysis informs on the spread of COVID-19
Chiral Quantum Materials: When Chemistry Meets Physics
Reply to the Comment on “The m6A Reader IGF2BP2 Regulates Macrophage Phenotypic Activation and Inflammatory Diseases by Stabilizing TSC1 and PPAR γ ”
Estimating private provision of public goods with heterogenous participants: A structural analysis
Trends and spatial shifts in lightning fires and smoke concentrations in response to 21st century climate over the national forests and parks of the western United States
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
Fractionation of stable carbon isotopes during acetate consumption by methanogenic and sulfidogenic microbial communities in rice paddy soils and lake sediments
The quality of financial reporting in China: An examination from an accounting restatement perspective
Improved AHP–TOPSIS model for the comprehensive risk evaluation of oil and gas pipelines
The effect of two educational technology tools on student engagement in Chinese EFL courses
Synthesis of Isonitriles from N-Substituted Formamides Using Triphenylphosphine and Iodine
A novel integrated approach based on best–worst and VIKOR methods for green supplier selection under multi-granularity extended probabilistic linguistic environment
Complex systems analysis informs on the spread of COVID-19
Chiral Quantum Materials: When Chemistry Meets Physics
Reply to the Comment on “The m6A Reader IGF2BP2 Regulates Macrophage Phenotypic Activation and Inflammatory Diseases by Stabilizing TSC1 and PPAR γ ”
Estimating private provision of public goods with heterogenous participants: A structural analysis