Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1530-0366
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3 ; day:8 ; month:12 ; year:2020 ; pages:1-6
Genetics in medicine ; (8.12.2020), 1-6
- Urheber
-
Osborn, Daniel Peter Sayer
Emrahi, Leila
Clayton, Joshua
Tabrizi, Mehrnoush Toufan
Wan, Alex Yui Bong
Maroofian, Reza
Yazdchi, Mohammad
Garcia, Michael Leon Enrique
Galehdari, Hamid
Hesse, Camila
Shariati, Gholamreza
Mazaheri, Neda
Sedaghat, Alireza
Goullée, Hayley
Laing, Nigel
Jamshidi, Yalda
Tajsharghi, Homa
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41436-020-01028-2
- URN
-
urn:nbn:de:101:1-2021011519404081848884
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:34 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
- Osborn, Daniel Peter Sayer
- Emrahi, Leila
- Clayton, Joshua
- Tabrizi, Mehrnoush Toufan
- Wan, Alex Yui Bong
- Maroofian, Reza
- Yazdchi, Mohammad
- Garcia, Michael Leon Enrique
- Galehdari, Hamid
- Hesse, Camila
- Shariati, Gholamreza
- Mazaheri, Neda
- Sedaghat, Alireza
- Goullée, Hayley
- Laing, Nigel
- Jamshidi, Yalda
- Tajsharghi, Homa
- SpringerLink (Online service)
Ähnliche Objekte (12)
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Autosomal recessive cerebellar ataxias
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Recessive TMOD1 mutation causes childhood cardiomyopathy
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Autosomal recessive cerebellar ataxias
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Recessive TMOD1 mutation causes childhood cardiomyopathy
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Autosomal recessive cerebellar ataxias
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Recessive TMOD1 mutation causes childhood cardiomyopathy
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss