(Q34633383)

3 August 2017

title

Chromosome abnormalities in two cases with bilateral radial element defects (English)

1 reference

3 August 2017

main subject

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5345108

5 May 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.6.3.342

5 May 2023

author name string

M. Faed

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5345108

5 May 2023

A. Stewart

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5345108

5 May 2023

A. J. Keay

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5345108

5 May 2023

language of work or name

English

0 references

publication date

1 September 1969

1 reference

full work available at URL

3 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5345108/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%3A5345108

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5345108/?tool=EBI

5 May 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5345108

https://europepmc.org/articles/PMC1468742

5 May 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5345108

https://europepmc.org/articles/PMC1468742?pdf=render

5 May 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%3A5345108

https://syndication.highwire.org/content/doi/10.1136/jmg.6.3.342

5 May 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.6.3.342

Journal of Medical Genetics

5 May 2023

published in

1 reference

3 August 2017

volume

6

1 reference

3 August 2017

issue

3

1 reference

3 August 2017

page(s)

342-346

1 reference

Familial heart disease with skeletal malformations

3 August 2017

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468742

Absent thumbs with a ring D2 chromosome: a new deletion syndrome

7 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468742

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468742

"Cri du Chat" due to a ring-B chromosome

7 July 2018

1 reference

12 December 2020

Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues

1 reference

12 December 2020

Spontaneous chromosome aberrations in familial panmyelopathy

1 reference

12 December 2020

[Partial trisomy 18 caused by insertion or translocation 4/18.]

1 reference

12 December 2020

Multiple congenital abnormalities associated with ring chromosome

1 reference

12 December 2020

PHOCOMELIA AND TRISOMY E

1 reference

12 December 2020

Chronic Pancytopenia with Multiple Congenital Abnormalities (Fanconi's Anaemia)

1 reference

12 December 2020

PALM-PRINTS AND A RING-D CHROMOSOME

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.6.3.342

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5345108

5 May 2023

1 reference

3 August 2017

1 reference