(Q28139353)

English

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

scientific article (publication date: November 1999)

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

0 references

cerebellar hypoplasia

1 reference

based on heuristic

inferred from title

Hoyeraal-Hreidarsson syndrome

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

S W Knight

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

N S Heiss

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T J Vulliamy

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

C M Aalfs

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

C McMahon

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Jones

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R C Hennekam

8

1 reference

Europe PubMed Central

PubMed publication ID

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2 November 2019

A Poustka

9

1 reference

Europe PubMed Central

PubMed publication ID

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2 November 2019

P J Mason

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

I Dokal

11

1 reference

Europe PubMed Central

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2 November 2019

language of work or name

0 references

publication date

1 November 1999

1 reference

Europe PubMed Central

PubMed publication ID

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2 November 2019

British Journal of Haematology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

107

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

335-339

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10583221%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.1999.01690.X

21 April 2017

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

1 reference

https://api.crossref.org/works/10.1046/J.1365-2141.1999.01690.X

21 April 2017

A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01690.X

21 January 2018

Dyskeratosis congenita: an inherited bone marrow failure syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01690.X

21 January 2018

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.1999.01690.X

21 January 2018

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