Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
about
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record.HGVS Recommendations for the Description of Sequence Variants: 2016 Update.CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.Sixty-five years since the New York heat wave: advances in sweat testing for cystic fibrosis.What can the CF registry tell us about rare CFTR-mutations? A Belgian study.LSDBs and How They Have Evolved.Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.A new insight into CFTR allele frequency in Brazil through next generation sequencing.What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.Fenretinide differentially modulates the levels of long- and very long-chain ceramides by downregulating Cers5 enzyme: evidence from bench to bedside.
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P2860
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Mutation nomenclature in pract ...... nal quality assessment scheme.
@en
Mutation nomenclature in pract ...... nal quality assessment scheme.
@nl
type
label
Mutation nomenclature in pract ...... nal quality assessment scheme.
@en
Mutation nomenclature in pract ...... nal quality assessment scheme.
@nl
prefLabel
Mutation nomenclature in pract ...... nal quality assessment scheme.
@en
Mutation nomenclature in pract ...... nal quality assessment scheme.
@nl
P2093
P2860
P356
P1433
P1476
Mutation nomenclature in pract ...... rnal quality assessment scheme
@en
P2093
Elisabeth Dequeker
Emmanuelle Girodon
Martin Schwarz
Michael A Morris
Sarah Berwouts
P2860
P304
P356
10.1002/HUMU.21569
P50
P577
2011-08-17T00:00:00Z