Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1530-0366

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: 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

Creator: 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

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41436-020-01028-2

URN: urn:nbn:de:101:1-2021011519404081848884

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:34 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

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)

Other Objects (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

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Recessive TMOD1 mutation causes childhood cardiomyopathy

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

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

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Recessive TMOD1 mutation causes childhood cardiomyopathy

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

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

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Recessive TMOD1 mutation causes childhood cardiomyopathy

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (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

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Recessive TMOD1 mutation causes childhood cardiomyopathy

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

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

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Recessive TMOD1 mutation causes childhood cardiomyopathy

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

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

Genetics of autosomal recessive intellectual disability

Autosomal recessive myotonia congenita in sheep

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Recessive TMOD1 mutation causes childhood cardiomyopathy

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

Related objects

Reset password