(Q34733503)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family (English)

1 reference

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20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Stephan Züchner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Gary Beecham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jia Huang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Gladys Montenegro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Eric Powell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Fiorella Speziani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

William Hulme

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Carly Siskind

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

20 January 2011

1 reference

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20 January 2020

1 reference

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20 January 2020

volume

1 reference

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20 January 2020

issue

1 reference

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20 January 2020

page(s)

464-470

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

20 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Molecular genetics of X-linked Charcot-Marie-Tooth disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Distribution and intensity of constraint in mammalian genomic sequence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

Connexin32 and X-linked Charcot–Marie–Tooth Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066289

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

7 July 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease

21 January 2018

1 reference

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

21 January 2018

1 reference

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

21 January 2018

1 reference

12 December 2020

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands

1 reference

12 December 2020

X-linked Charcot-Marie-Tooth disease and connexin32

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.22235

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

release_mhw2nyapcbcbxbw7ew25sx4t6i

20 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mhw2nyapcbcbxbw7ew25sx4t6i

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

21254193

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json