Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. (Q35079992)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24896146%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes (English)

1 reference

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19 March 2020

1 reference

1

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19 March 2020

Ana Berta Sousa

4

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19 March 2020

Jose Luis Costa

8

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19 March 2020

author name string

Patrícia Dias

2

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19 March 2020

Maria João Pina

3

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19 March 2020

Luís Cirnes

5

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19 March 2020

Ana Berta Sousa

6

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19 March 2020

José Carlos Machado

7

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19 March 2020

publication date

4 June 2014

1 reference

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European Journal of Human Genetics

19 March 2020

published in

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19 March 2020

volume

23

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19 March 2020

issue

3

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19 March 2020

page(s)

347-353

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.97

19 March 2020

exact match

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21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/24896146

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24896146

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24896146%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24896146%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference