Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. (Q35974905)

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31 March 2020

title

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation (English)

1 reference

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31 March 2020

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1

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31 March 2020

Luca Lovrecić

2

1 reference

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31 March 2020

Marija Volk

3

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31 March 2020

Alenka Hodzic

7

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31 March 2020

author name string

Gorazd Rudolf

4

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31 March 2020

Karin Writzl

5

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31 March 2020

Ana Blatnik

6

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31 March 2020

Peterlin Borut

8

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31 March 2020

language of work or name

English

0 references

publication date

31 March 2016

1 reference

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31 March 2020

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31 March 2020

volume

18

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31 March 2020

issue

11

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31 March 2020

page(s)

1102-1110

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https://scigraph.springernature.com/pub.10.1038/gim.2016.22

31 March 2020

exact match

0 references

cites work

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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

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The usefulness of whole-exome sequencing in routine clinical practice.

21 January 2018

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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

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Parkinson disease: genetic testing in Parkinson disease-who should be assessed?

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1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27031083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Challenges in the clinical application of whole-genome sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27031083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27031083

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2016.22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27031083%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference