(Q44574756)

4 December 2017

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population (English)

1 reference

4 December 2017

0 references

1 reference

4

Robert J Desnick

1 reference

4 December 2017

Ruth Kornreich

1

1 reference

4 December 2017

Josef Ekstein

series ordinal

2

1 reference

4 December 2017

Lisa Edelmann

series ordinal

3

1 reference

4 December 2017

language of work or name

English

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publication date

1 September 2004

1 reference

4 December 2017

1 reference

4 December 2017

6

1 reference

4 December 2017

5

1 reference

4 December 2017

415-420

1 reference

https://scigraph.springernature.com/pub.10.1097/01.gim.0000139510.00644.f7

4 December 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Standards and guidelines for CFTR mutation testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Future perspectives for Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

Characterization of mutations located in exon 18 of the CFTR gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

CFTR genotypes in patients with normal or borderline sweat chloride levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139510.00644.F7

10.1097/01.GIM.0000139510.00644.F7

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

4 December 2017

0 references

1 reference