(Q24514927)

1 July 2017

title

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? (English)

1 reference

autosomal recessive Robinow syndrome

1 July 2017

main subject

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.15.2.123

30 August 2023

author name string

R. S. Wadia

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641945

17 July 2022

D. B. Shirole

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641945

17 July 2022

M. S. Dikshit

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641945

17 July 2022

language of work or name

English

0 references

publication date

1 April 1978

1 reference

full work available at URL

1 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/641945/pdf/?tool=EBI

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%3A641945

http://jmg.bmjjournals.com/cgi/content/abstract/15/2/123

17 July 2022

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%3A641945

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/641945/?tool=EBI

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641945

https://europepmc.org/articles/PMC1013660

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641945

https://europepmc.org/articles/PMC1013660?pdf=render

17 July 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%3A641945

https://syndication.highwire.org/content/doi/10.1136/jmg.15.2.123

17 July 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.15.2.123

Journal of Medical Genetics

30 August 2023

published in

1 reference

1 July 2017

volume

15

1 reference

1 July 2017

issue

2

1 reference

1 July 2017

page(s)

123-127

1 reference

Multiple congenital dislocations associated with characteristic facial abnormality

1 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=1013660

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013660

A NEW TYPE OF DWARFISM WITH VARIOUS BONE APLASIAS AND HYPOPLASIAS OF THE EXTREMITIES.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013660

A syndrome of bizarre vertebral anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013660

Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013660

Basal cell nevus syndrome. Combined clinical staff conference at the National Institutes of Health

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013660

[Mandibulo-facial abnormalities and their differentiation from an oculo-vertebral syndrome.]

30 May 2018

1 reference

12 December 2020

The Bloch-Sulzberger syndrome (incontinentia pigmenti)

1 reference

12 December 2020

Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible Type

1 reference

12 December 2020

Dyschondrosteosis. The most common cause of Madelung's deformity

1 reference

12 December 2020

Identifiers

0 references

0 references

1 reference