(Q43073359)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders (English)

1 reference

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8 January 2020

1 reference

1

1 reference

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8 January 2020

author name string

E M Valente

2

1 reference

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8 January 2020

M A Donati

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

S Salvi

4

1 reference

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8 January 2020

E Fazzi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

E Procopio

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

T Galluccio

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

F Emma

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

B Dallapiccola

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

E Bertini

10

1 reference

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8 January 2020

Italian MTS Study Group

11

1 reference

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8 January 2020

language of work or name

English

0 references

publication date

1 February 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 January 2020

published in

1 reference

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8 January 2020

volume

42

1 reference

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8 January 2020

page(s)

e9

1 reference

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8 January 2020

issue

2

1 reference

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8 January 2020

Identifiers

DOI

10.1136/JMG.2004.027375

1 reference

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8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15689444%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference