(Q42098342)

https://api.crossref.org/works/10.1136/JMG.20.5.383

16 October 2017

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23) (English)

1 reference

26 August 2023

main subject

human chromosomes 1-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

26 August 2023

human chromosomes 16-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

26 August 2023

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

26 August 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.20.5.383

26 August 2023

author name string

D. J. Shawe

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

26 August 2023

C. Fear

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

26 August 2023

W. J. Appleyard

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

26 August 2023

language of work or name

English

0 references

publication date

1 October 1983

1 reference

PMC publication ID

1049156

full work available at URL

16 October 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6196484/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6196484/pdf/?tool=EBI

26 August 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%3A6196484

http://jmg.bmjjournals.com/cgi/content/abstract/20/5/383

26 August 2023

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%3A6196484

https://europepmc.org/articles/PMC1049156

26 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6196484

https://europepmc.org/articles/PMC1049156?pdf=render

26 August 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%3A6196484

https://syndication.highwire.org/content/doi/10.1136/jmg.20.5.383

26 August 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.20.5.383

Journal of Medical Genetics

26 August 2023

published in

1 reference

16 October 2017

20

1 reference

16 October 2017

5

1 reference

16 October 2017

383-385

1 reference

Morphologic abnormality due to duplication of chromosome 17 (46,XY,17q+) in a newborn infant

16 October 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049156

Identification of isochromosome 17 in a girl with mental retardation and congenital malformations

29 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049156

Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).

29 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049156

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049156

A Patient With a Partial Deletion of the Short Arm of Chromosome 3

29 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6196484

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6196484

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.20.5.383

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6196484

26 August 2023

1 reference

PMC publication ID

1049156

16 October 2017

1 reference

PMC publication ID

1049156