Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1474-760X
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Exome sequencing identifies a missense mutation in Isl1associated with low penetrance otitis media in dearisch mice ; volume:12 ; number:9 ; day:21 ; month:9 ; year:2011 ; pages:1-19 ; date:9.2011
Genome biology ; 12, Heft 9 (21.9.2011), 1-19, 9.2011
- Urheber
-
Hilton, Jennifer M.
- Beteiligte Personen und Organisationen
-
Lewis, Morag A.
Grati, M'hamed
Ingham, Neil
Pearson, Selina
Laskowski, Roman A.
Adams, David J.
Steel, Karen P.
SpringerLink (Online service)
- DOI
-
10.1186/gb-2011-12-9-r90
- URN
-
urn:nbn:de:1111-201605025838
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:53 MESZ
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
- Hilton, Jennifer M.
- Lewis, Morag A.
- Grati, M'hamed
- Ingham, Neil
- Pearson, Selina
- Laskowski, Roman A.
- Adams, David J.
- Steel, Karen P.
- SpringerLink (Online service)
Ähnliche Objekte (12)
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family
Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency
Exome-wide analysis identifies three low-frequency missense variants associated with pancreatic cancer risk in Chinese populations
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family
Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency
Exome-wide analysis identifies three low-frequency missense variants associated with pancreatic cancer risk in Chinese populations
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family
Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency
Exome-wide analysis identifies three low-frequency missense variants associated with pancreatic cancer risk in Chinese populations
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers