(Q41930610)

14 October 2017

title

Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

21 November 2022

main subject

cerebellar hypoplasia

1 reference

0 references

J. Charrow

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1776639

21 November 2022

A. K. Poznanski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1776639

21 November 2022

F. M. Unger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1776639

21 November 2022

M. Robinow

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1776639

21 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1776639

21 November 2022

publication date

1 December 1991

1 reference

14 October 2017

15 December 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1776639

full work available at URL

21 November 2022

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320410417

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320410417

21 November 2022

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

American Journal of Medical Genetics Part A

21 November 2022

published in

1 reference

14 October 2017

volume

41

1 reference

14 October 2017

issue

4

1 reference

14 October 2017

page(s)

464-468

1 reference

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320410417

Joubert syndrome: clinical and polygraphic observations in a further case

21 January 2018

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

21 November 2022

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

Autosomal recessive cerebellar hypoplasia

21 November 2022

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

Autosomal recessive congenital cerebellar hypoplasia

21 November 2022

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410417

21 November 2022

Identifiers

1 reference

14 October 2017

1 reference