(Q59416415)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

review article

1 reference

title

Analysis of published PKD1 gene sequence variants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Roser Torra

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Stephane Burtey

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Carine Wouters

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jitka Štekrová

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

27

Luba Kalaydjieva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Alexander M Gout

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

David Ravine

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

ADPKD Gene Variant Consortium

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Peter C Harris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Sandro Rossetti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Dorien Peters

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Martijn Breuning

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Elizabeth Petri Henske

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Akio Koizumi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Sumiko Inoue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Yoshiko Shimizu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Wanna Thongnoppakhun

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Pa-thai Yenchitsomanus

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Richard Sandford

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Alberto E Turco

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Steve Jeffery

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Michel Fontes

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Stefan Somlo

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Laszlo M Furu

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Yvo M Smulders

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Bernard Mercier

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Claude Ferec

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

York Pei

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Nadja Bogdanova

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Marie McCluskey

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Lee Jung Geon

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jana Reiterova

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jose L San Millan

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Gianluca Aguiari

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Laura Del Senno

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

language of work or name

English

0 references

publication date

1 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

427-428

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng0407-427

28 December 2019

exact match

0 references

cites work

Proof of "disease causing" mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

The challenge of documenting mutation across the genome: the human genome variation society approach

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme.

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Genetic testing and quality control in diagnostic laboratories

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Artemis: sequence visualization and annotation

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Error detection in text: do feedback and familiarity help?

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Mistaken identifiers: gene name errors can be introduced inadvertently when using Excel in bioinformatics

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1038%2FNG0407-427

7 January 2021

Identifiers

DOI

10.1038/NG0407-427

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17392796%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference