(Q34326768)

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An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement (English)

1 reference

Europe PubMed Central

1 August 2017

author name string

I Touitou

1

1 reference

Europe PubMed Central

1 August 2017

C Rittore

2

1 reference

Europe PubMed Central

1 August 2017

L Philibert

3

1 reference

Europe PubMed Central

1 August 2017

J Yagüe

4

1 reference

Europe PubMed Central

1 August 2017

Y Shinar

5

1 reference

Europe PubMed Central

1 August 2017

I Aksentijevich

6

1 reference

Europe PubMed Central

1 August 2017

publication date

28 January 2009

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Europe PubMed Central

1 August 2017

European Journal of Human Genetics

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Europe PubMed Central

1 August 2017

17

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Europe PubMed Central

1 August 2017

7

1 reference

Europe PubMed Central

1 August 2017

890-896

1 reference

Europe PubMed Central

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.253

0 references

Mutations in NALP12 cause hereditary periodic fever syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

6 July 2018

Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

6 July 2018

Hereditary periodic fever syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

6 July 2018

The genetic basis of autosomal dominant familial Mediterranean fever

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

6 July 2018

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

6 July 2018

Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

EQUAL-quant: an international external quality assessment scheme for real-time PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Multilaboratory testing in thrombophilia through the United Kingdom National External Quality Assessment Scheme (Blood Coagulation) Quality Assurance Program.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Nomenclature for the description of human sequence variations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Quality control in molecular genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986501

27 October 2018

Identifiers

10.1038/EJHG.2008.253

1 reference

Europe PubMed Central

1 August 2017

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0 references

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

ResearchGate publication ID

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