(Q43074483)

13 November 2017

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene (English)

1 reference

13 November 2017

1 reference

10.1136/JMG.40.10.761

https://api.crossref.org/works/10.1136/JMG.40.10.761

23 March 2024

author name string

Vossen JM

5

1 reference

13 November 2017

Hennekam RC

8

1 reference

13 November 2017

T. W. Kuijpers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

M. Ridanpää

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

M. Peters

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

I. de Boer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

J. M J J. Vossen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

S. T. Pals

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

I. Kaitila

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

R. C M. Hennekam

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

23 March 2024

language of work or name

English

0 references

publication date

1 October 2003

1 reference

full work available at URL

13 November 2017

https://jmg.bmj.com/content/jmedgenet/40/10/761.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%3A14569125

https://europepmc.org/articles/PMC1735290

23 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14569125

https://europepmc.org/articles/PMC1735290?pdf=render

23 March 2024

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%3A14569125

https://doi.org/10.1136/jmg.40.10.761

23 March 2024

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%3A14569125

Journal of Medical Genetics

23 March 2024

published in

1 reference

13 November 2017

40

1 reference

13 November 2017

10

1 reference

13 November 2017

761-766

1 reference

13 November 2017

Identifiers

DOI

10.1136/JMG.40.10.761

1 reference

13 November 2017

1 reference

13 November 2017

1 reference