Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype ; volume:16 ; number:1 ; day:6 ; month:1 ; year:2021 ; pages:1-11 ; date:12.2021
Orphanet journal of rare diseases ; 16, Heft 1 (6.1.2021), 1-11, 12.2021
- Creator
-
Qaiser, Farah
Yin, Yue
Mervis, Carolyn B.
Morris, Colleen A.
Klein-Tasman, Bonita P.
Tam, Elaine
Osborne, Lucy R.
Yuen, Ryan K. C.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-020-01648-6
- URN
-
urn:nbn:de:101:1-2021020723051219119878
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:26 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
- Qaiser, Farah
- Yin, Yue
- Mervis, Carolyn B.
- Morris, Colleen A.
- Klein-Tasman, Bonita P.
- Tam, Elaine
- Osborne, Lucy R.
- Yuen, Ryan K. C.
- SpringerLink (Online service)
Other Objects (12)
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants
Tumor cell-derived vesicles modify the phenotype of fibroblasts in Hodgkin lymphoma
STAMBPL1/TRIM21 Balances AXL Stability Impacting Mesenchymal Phenotype and Immune Response in KIRC
Role of Genomic Variants in DNA Repair Genes to Modify the Age at Onset of Hereditary Breast Cancer in BRCA1 Carriers
Phenylketonuria : Genomic interaction and the phenotype
Association analysis of rare genomic variants
Accounting for Epistasis in Genomic Phenotype Prediction
MC1R gene variants involvement in human OCA phenotype
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
The genomic signature of trait-associated variants
Splice-disrupt genomic variants in prostate cancer
P02-031 - Phenotype of V198M and Q703K NLRP3 variants
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants
Tumor cell-derived vesicles modify the phenotype of fibroblasts in Hodgkin lymphoma
STAMBPL1/TRIM21 Balances AXL Stability Impacting Mesenchymal Phenotype and Immune Response in KIRC
Role of Genomic Variants in DNA Repair Genes to Modify the Age at Onset of Hereditary Breast Cancer in BRCA1 Carriers
Phenylketonuria : Genomic interaction and the phenotype
Association analysis of rare genomic variants
Accounting for Epistasis in Genomic Phenotype Prediction
MC1R gene variants involvement in human OCA phenotype
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
The genomic signature of trait-associated variants
Splice-disrupt genomic variants in prostate cancer
P02-031 - Phenotype of V198M and Q703K NLRP3 variants
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants
Tumor cell-derived vesicles modify the phenotype of fibroblasts in Hodgkin lymphoma
STAMBPL1/TRIM21 Balances AXL Stability Impacting Mesenchymal Phenotype and Immune Response in KIRC
Role of Genomic Variants in DNA Repair Genes to Modify the Age at Onset of Hereditary Breast Cancer in BRCA1 Carriers
Phenylketonuria : Genomic interaction and the phenotype
Association analysis of rare genomic variants
Accounting for Epistasis in Genomic Phenotype Prediction
MC1R gene variants involvement in human OCA phenotype
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
The genomic signature of trait-associated variants
Splice-disrupt genomic variants in prostate cancer