(Q24514973)

1 July 2017

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? (English)

1 reference

1 July 2017

0 references

al-Gazali LI

3

1 reference

1 July 2017

DeBuse P

4

1 reference

1 July 2017

T. Revesz

1

author given names

T

author last names

Revesz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404302

23 September 2022

S. Fletcher

2

author given names

S

author last names

Fletcher

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404302

23 September 2022

L. I. al-Gazali

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404302

23 September 2022

P. DeBuse

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404302

23 September 2022

language of work or name

English

0 references

publication date

1 September 1992

1 reference

full work available at URL

1 July 2017

https://europepmc.org/articles/PMC1016105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404302

https://europepmc.org/articles/PMC1016105?pdf=render

23 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1404302

Journal of Medical Genetics

23 September 2022

published in

1 reference

1 July 2017

29

1 reference

1 July 2017

673-675

1 reference

1 July 2017

9

1 reference

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification

1 July 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016105

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature

27 September 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016105

Dyskeratosis congenita with hypoplastic anemia: a stem cell defect.

27 September 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016105

30 May 2018

Dyskeratosis congenita

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404302

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.9.673

1 reference

release_pcm6wjd5svha3k7bi4frthwlza

1 July 2017

0 references

0 references

1 reference