(Q24678036)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

case report

0 references

title

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

6

1 reference

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2 November 2019

Karen M Lower

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

A Baumstark

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Sinkus

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

I Andriuskeviciute

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

L Jurkeniene

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

W Just

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 April 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

2 November 2019

published in

1 reference

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2 November 2019

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

e50

1 reference

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2 November 2019

Identifiers

DOI

10.1136/JMG.40.4.E50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12676923%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

12676923

1 reference