Characterization of SPATA5-related encephalopathy in early childhood (Q41922006)

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scientific article published on June 2016

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English	Characterization of SPATA5-related encephalopathy in early childhood	scientific article published on June 2016

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

retrieved

14 October 2017

title

Characterization of SPATA5-related encephalopathy in early childhood (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

retrieved

14 October 2017

author

Tetsuya Okazaki

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

Masaya Kubota

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

Hirotomo Saitsu

series ordinal

11

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

Mitsuhiro Kato

series ordinal

13

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

author name string

H Kurata

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

H Terashima

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

M Nakashima

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

W Matsumura

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

K Ohno

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

Y Saito

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

Y Maegaki

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

E Nanba

series ordinal

10

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

N Matsumoto

series ordinal

12

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

publication date

1 June 2016

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

retrieved

14 October 2017

published in

Clinical Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

volume

90

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

issue

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

page(s)

437-444

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

cites work

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

MutationTaster evaluates disease-causing potential of sequence alterations

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

The genotypic and phenotypic spectrum of PIGA deficiency

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Evoked Potentials in Neuronal Ceroid Lipofuscinosis

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Visual evoked potentials in children with occipital epilepsies

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FCGE.12813

retrieved

21 January 2018

Identifiers

DOI

10.1111/CGE.12813

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

PubMed publication ID

27246907

1 reference

stated in

Europe PubMed Central

PubMed publication ID

27246907

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27246907%20AND%20SRC:MED&resulttype=core&format=json

retrieved

7 June 2020

 

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