(Q34634173)

3 August 2017

title

Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.8.1.107

3 August 2017

0 references

1 reference

1 reference

15 December 2023

1 reference

M. H. Shokeir

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

15 December 2023

C. S. Houston

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

15 December 2023

C. F. Awen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

15 December 2023

language of work or name

English

0 references

publication date

1 March 1971

1 reference

full work available at URL

3 August 2017

https://jmg.bmj.com/content/jmedgenet/8/1/107.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5098065/?tool=EBI

15 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5098065/pdf/?tool=EBI

15 December 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

https://europepmc.org/articles/PMC1468975

15 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5098065

https://europepmc.org/articles/PMC1468975?pdf=render

15 December 2023

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%3A5098065

https://syndication.highwire.org/content/doi/10.1136/jmg.8.1.107

15 December 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.8.1.107

Journal of Medical Genetics

15 December 2023

published in

1 reference

3 August 2017

volume

8

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

107-112

1 reference

[Case of polyepiphysial, endochondral dystrophy in a newborn infant with fatal involvement of the respiratory function]

3 August 2017

cites work

1 reference

12 December 2020

Infantile thoracic dystrophy—a variant of Ellis-Van Creveld syndrome

1 reference

12 December 2020

[Asphyxiating thoracic dystrophy in the infant.]

1 reference

12 December 2020

[Polychondrodystrophy with fatal throacic blockage]

1 reference

12 December 2020

ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME

1 reference

12 December 2020

PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY

1 reference

12 December 2020

Asphyxiating thoracic dystrophy of the newborn

1 reference

12 December 2020

The Thoracic Asphyxiant Dystrophy and Renal Disease

1 reference

12 December 2020

[Clinical considerations on a case of polychondrodystrophy.]

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.8.1.107

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5098065

15 December 2023

1 reference

3 August 2017

1 reference