(Q84595237)

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A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing

scientific article published on 24 July 2010

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

cystic fibrosis

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based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Halyna Makukh

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Petra Krenková

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Marta Tyrkus

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Lyudmyla Bober

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Miroslava Hancárová

5

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Oleh Hnateyko

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Milan Macek

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

publication date

24 July 2010

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Journal of Cystic Fibrosis

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

9

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

371-375

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

European best practice guidelines for cystic fibrosis neonatal screening

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/J.JCF.2010.06.001

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/J.JCF.2010.06.001

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/J.JCF.2010.06.001

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/J.JCF.2010.06.001

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/J.JCF.2010.06.001

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

1 reference

27 May 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/J.JCF.2010.06.001

Identifiers

10.1016/J.JCF.2010.06.001

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20659818%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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