(Q54296829)

27 May 2018

title

Tackling the achilles' heel of genetic testing. (English)

1 reference

27 May 2018

author

Hugh Christian Watkins

series ordinal

1

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27 May 2018

language of work or name

English

0 references

publication date

1 January 2015

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27 May 2018

Science Translational Medicine

published in

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27 May 2018

volume

7

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27 May 2018

issue

270

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27 May 2018

page(s)

270fs1

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27 May 2018

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

cites work

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

Truncations of titin causing dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

Inherited Cardiomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

Atypical phenotypes in titinopathies explained by second titin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAA4276

10.1126/SCITRANSLMED.AAA4276

21 January 2018

Identifiers

DOI

1 reference

27 May 2018

PubMed ID

25589629

1 reference

27 May 2018