(Q33597947)

28 July 2017

1 reference

title

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy (English)

1 reference

28 July 2017

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.28.12.884

23 October 2022

author name string

van Essen AJ

3

1 reference

28 July 2017

J. H. Begeer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1661780

23 October 2022

F. A. Scholte

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1661780

23 October 2022

A. J. van Essen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1661780

23 October 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1017170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1661780

https://europepmc.org/articles/PMC1017170?pdf=render

23 October 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%3A1661780

https://syndication.highwire.org/content/doi/10.1136/jmg.28.12.884

23 October 2022

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1136/JMG.28.12.884

Journal of Medical Genetics

23 October 2022

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

12

1 reference

28 July 2017

page(s)

884-885

1 reference

A neuroectodermal syndrome of dominant inheritance

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017170

A new familial syndrome with ataxia, hearing loss, and mental retardation. Report of three brothers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017170

FAMILIAL SYNDROME COMBINING ATAXIA, DEAFNESS AND OLIGOPHRENIA. MYOCARDIAL SCLEROSIS WITH FATAL DEVELOPMENT IN ONE OF THE CHILDREN

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017170

Ataxia-deafness-retardation syndrome in three sisters.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017170

Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1661780

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1661780

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The hereditary ataxias and related disorders

1

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1136/JMG.28.12.884

23 October 2022

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference