(Q36341025)

13 August 2017

Clinical utility gene card for: Dyskeratosis congenita - update 2015. (English)

1 reference

13 August 2017

dyskeratosis congenita

1 reference

Inderjeet Dokal

1

1 reference

13 August 2017

Tom Vulliamy

series ordinal

2

1 reference

13 August 2017

Philip Mason

series ordinal

3

1 reference

13 August 2017

Monica Bessler

series ordinal

4

1 reference

13 August 2017

3 September 2014

1 reference

European Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

23

1 reference

13 August 2017

4

1 reference

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

Dyskeratosis congenita: the first NIH clinical research workshop

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

Advances in the understanding of dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4667501

30 September 2017

Dyskeratosis Congenita

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.170

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25182133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25182133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dyskeratosis congenita

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25182133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.170

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

25182133

1 reference