(Q41924650)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

André Reis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

S Kleier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

B Wittwer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

R Varon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J Horst

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

language of work or name

1 reference

1 May 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

384-387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

A new chromosomal instability disorder: the Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Nijmegen Breakage syndrome: a progress report

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Chromosomal breakage syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Prenatal diagnosis of ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

inferred from DOI database lookup

7 January 2021

based on heuristic

First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570509.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2000.570509.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852373%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference