(Q35064308)

6 August 2017

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability (English)

1 reference

non-syndromic intellectual disability

6 August 2017

0 references

0 references

disability affecting intellectual abilities

1 reference

Mustafa Tekin

6

0 references

author name string

Michelle Falcone

1

1 reference

6 August 2017

Kemal O Yariz

2

1 reference

6 August 2017

David B Ross

3

1 reference

6 August 2017

Joseph Foster

4

1 reference

6 August 2017

Ibis Menendez

5

1 reference

6 August 2017

language of work or name

English

0 references

publication date

6 December 2013

1 reference

6 August 2017

1 reference

6 August 2017

8

1 reference

6 August 2017

12

1 reference

6 August 2017

e82810

1 reference

Creative Commons Attribution 4.0 International

6 August 2017

start time

6 December 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

Autozygosity mapping with exome sequence data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

Genomics, intellectual disability, and autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

Fast and accurate long-read alignment with Burrows-Wheeler transform

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

Szt2, a novel gene for seizure threshold in mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3855772

A de novo paradigm for mental retardation.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082810

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0082810

10.1371/JOURNAL.PONE.0082810

21 January 2018

Identifiers

DOI

1 reference

6 August 2017

0 references

1 reference

6 August 2017

1 reference