(Q57250847)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

0 references

1 reference

2

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15 January 2020

author name string

Shrikant Mane

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Maritza Arroyo Muniz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Ruth H Walker

1

1 reference

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15 January 2020

Irina R Tikhonova

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Milind C Mahajan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Patrick G Gallagher

7

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15 January 2020

language of work or name

English

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publication date

28 October 2011

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15 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

27

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15 January 2020

issue

4

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15 January 2020

page(s)

539-543

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

15 January 2020

cites work

1 reference

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

21 January 2018

1 reference

The value of DNA analysis for antigens of the Kell and Kx blood group systems

21 January 2018

1 reference

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

1 reference

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

21 January 2018

1 reference

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

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

21 January 2018

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

Improving SNP discovery by base alignment quality

21 January 2018

1 reference

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

dbSNP: the NCBI database of genetic variation

21 January 2018

1 reference

Dindel: accurate indel calls from short-read data

21 January 2018

1 reference

Distribution and intensity of constraint in mammalian genomic sequence

21 January 2018

1 reference

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease

21 January 2018

1 reference

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

21 January 2018

1 reference

Chorein detection for the diagnosis of chorea-acanthocytosis

21 January 2018

1 reference

Accurate and exact CNV identification from targeted high-throughput sequence data

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

The GENCODE exome: sequencing the complete human exome

21 January 2018

1 reference

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

Revisiting Mendelian disorders through exome sequencing

21 January 2018

1 reference

Exome sequencing deciphers rare diseases

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.24020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22038564%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference