- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy ; volume:10 ; number:1 ; day:5 ; month:6 ; year:2015 ; pages:1-5 ; date:12.2015
Orphanet journal of rare diseases ; 10, Heft 1 (5.6.2015), 1-5, 12.2015
- Urheber
-
Gutierrez, Mariana
Thiffault, Isabelle
Guerrero, Kether
Martos-Moreno, Gabriel Á
Tran, Luan T.
Benko, William
van der Knaap, Marjo S.
van Spaendonk, Rosalina M. L.
Wolf, Nicole I.
Bernard, Geneviève
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-015-0279-9
- URN
-
urn:nbn:de:101:1-2021082619134400253709
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
2025-08-14T10:47:16+0200
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Gutierrez, Mariana
- Thiffault, Isabelle
- Guerrero, Kether
- Martos-Moreno, Gabriel Á
- Tran, Luan T.
- Benko, William
- van der Knaap, Marjo S.
- van Spaendonk, Rosalina M. L.
- Wolf, Nicole I.
- Bernard, Geneviève
- SpringerLink (Online service)
Ähnliche Objekte (12)
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus
Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions
Emerging genotype–phenotype relationships in patients with large NF1 deletions
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
Age-related differences in 1p and 19q deletions in oligodendrogliomas
Calcitonin gene-related peptide causes migraine aura
An effect of large-scale deletions and duplications on transcript expression
Occurrence of large-scale mitochondrial DNA deletions in human colorectal cancer
DNA sequence features underlying large-scale duplications and deletions in human
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus
Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions
Emerging genotype–phenotype relationships in patients with large NF1 deletions
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
Age-related differences in 1p and 19q deletions in oligodendrogliomas
Calcitonin gene-related peptide causes migraine aura
An effect of large-scale deletions and duplications on transcript expression
Occurrence of large-scale mitochondrial DNA deletions in human colorectal cancer
DNA sequence features underlying large-scale duplications and deletions in human
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus
Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions
Emerging genotype–phenotype relationships in patients with large NF1 deletions
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
Age-related differences in 1p and 19q deletions in oligodendrogliomas
Calcitonin gene-related peptide causes migraine aura
An effect of large-scale deletions and duplications on transcript expression
Occurrence of large-scale mitochondrial DNA deletions in human colorectal cancer