(Q34104049)

31 July 2017

title

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (English)

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disability affecting intellectual abilities

31 July 2017

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intellectual disability

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16

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31 July 2017

Karen L Oliver

6

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Samuel Berkovic

object named as

Samuel F Berkovic

15

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Lachlan A Jolly

object named as

Lachlan Jolly

3

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Leanne Dibbens

10

object named as

Leanne M Dibbens

1 reference

31 July 2017

Mark A Corbett

1

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31 July 2017

Melanie Bahlo

2

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31 July 2017

Zaid Afawi

4

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31 July 2017

Alison E Gardner

5

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31 July 2017

Stanley Tan

7

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31 July 2017

Amy Coffey

8

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31 July 2017

John C Mulley

9

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31 July 2017

Walid Simri

11

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31 July 2017

Adel Shalata

12

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31 July 2017

Sara Kivity

13

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31 July 2017

Graeme D Jackson

14

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31 July 2017

language of work or name

English

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publication date

1 September 2010

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

87

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31 July 2017

issue

3

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31 July 2017

page(s)

371-375

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Duplication hotspots, rare genomic disorders, and common disease

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Generating linkage mapping files from Affymetrix SNP chip data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Viewing and editing assembled sequences using Consed

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Navigating the channels and beyond: unravelling the genetics of the epilepsies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Genome-wide in situ exon capture for selective resequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Direct selection of human genomic loci by microarray hybridization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Culturing hippocampal neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

SSAHA: a fast search method for large DNA databases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

Computational analyses of TBC protein family in eukaryotes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

The primate-specific protein TBC1D3 is required for optimal macropinocytosis in a novel ARF6-dependent pathway

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

A population-based study on epilepsy in mentally retarded children

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2933342

10.1016/J.AJHG.2010.08.001

28 October 2018

Identifiers

DOI

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31 July 2017

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31 July 2017

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