(Q42143764)

17 October 2017

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation (English)

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17 October 2017

1

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17 October 2017

21 December 2010

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17 October 2017

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17 October 2017

11

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17 October 2017

12

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17 October 2017

144

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https://scigraph.springernature.com/pub.10.1186/gb-2010-11-12-144

17 October 2017

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cites work

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Rate, molecular spectrum, and consequences of human mutation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Exome sequencing identifies the cause of a mendelian disorder

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Targeted capture and massively parallel sequencing of 12 human exomes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

A de novo paradigm for mental retardation.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3046476

10.1186/GB-2010-11-12-144

17 August 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

17 October 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/gb-2010-11-12-144

1 reference

17 October 2017

PubMed publication ID

21172032

1 reference