Literature DB >> 23623466

Forty-five years to diagnosis.

Jeanette Erdmann1, Heribert Schunkert.   

Abstract

A long lasting journey of almost 45 years led in the end to a diagnosis of a Collagen 6A myopathy. Modern information technology and next generation sequencing made the difference - a very personal report.
Copyright © 2013 Elsevier B.V. All rights reserved.

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Year:  2013        PMID: 23623466     DOI: 10.1016/j.nmd.2013.03.006

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  3 in total

Review 1.  Next generation sequencing and the future of genetic diagnosis.

Authors:  Katja Lohmann; Christine Klein
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

2.  [Genetic analyses as basis for a personalized medicine in patients with coronary artery disease].

Authors:  T Kessler; B Kaess; F Bourier; J Erdmann; H Schunkert
Journal:  Herz       Date:  2014-03       Impact factor: 1.443

3.  What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?

Authors:  Jeanette Erdmann
Journal:  Orphanet J Rare Dis       Date:  2021-01-21       Impact factor: 4.123

  3 in total

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