Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. (Q21198726)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24083349%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech (English)

1 reference

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26 February 2020

1 reference

1 reference

1 reference

4

Brandon M Wilk

Brandon M

Wilk

1 reference

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26 February 2020

7

David P Dimmock

David P

Dimmock

1 reference

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26 February 2020

8

Edythe A Strand

Edythe A

Strand

1 reference

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26 February 2020

Elizabeth A Worthey

1

Elizabeth A

Worthey

1 reference

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26 February 2020

Gordana Raca

2

Gordana

Raca

1 reference

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26 February 2020

Jennifer J Laffin

3

Jennifer J

Laffin

1 reference

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26 February 2020

Jeremy M Harris

5

Jeremy M

Harris

1 reference

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26 February 2020

Kathy J Jakielski

6

Kathy J

Jakielski

1 reference

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26 February 2020

Lawrence D Shriberg

9

Lawrence D

Shriberg

1 reference

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26 February 2020

language of work or name

English

0 references

publication date

2 October 2013

1 reference

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Journal of Neurodevelopmental Disorders

26 February 2020

published in

1 reference

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26 February 2020

volume

5

1 reference

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26 February 2020

issue

1

1 reference

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26 February 2020

page(s)

29

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26 February 2020

1 reference

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Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

19 March 2017

1 reference

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

19 March 2017

1 reference

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The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat.

19 March 2017

1 reference

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Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

19 March 2017

1 reference

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A functional genetic link between distinct developmental language disorders

19 March 2017

1 reference

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A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

19 March 2017

1 reference

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

19 March 2017

1 reference

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Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

19 March 2017

1 reference

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Severe expressive-language delay related to duplication of the Williams-Beuren locus

19 March 2017

1 reference

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Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Caspr regulates the processing of contactin and inhibits its binding to neurofascin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Neurogenomics of speech and language disorders: the road ahead

19 March 2017

1 reference

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Genome sequencing and cancer

19 March 2017

1 reference

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Foxp1 and lhx1 coordinate motor neuron migration with axon trajectory choice by gating Reelin signalling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

The E646D-ATP13A4 mutation associated with autism reveals a defect in calcium regulation

19 March 2017

1 reference

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FOXP2 as a molecular window into speech and language

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Foxp2 and Foxp1 cooperatively regulate lung and esophagus development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

A forkhead-domain gene is mutated in a severe speech and language disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Shining a light on CNTNAP2: complex functions to complex disorders

19 March 2017

1 reference

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Foxp2 mutations impair auditory-motor association learning

19 March 2017

1 reference

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Recent advances in the genetics of language impairment

19 March 2017

1 reference

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Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells

19 March 2017

1 reference

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Generation of mice with a conditional Foxp2 null allele

19 March 2017

1 reference

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Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

19 March 2017

1 reference

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Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

7 April 2017

1 reference

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

7 April 2017

1 reference

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Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

7 April 2017

1 reference

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Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

7 April 2017

1 reference

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Decoding the genetics of speech and language

12 September 2017

1 reference

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Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay

12 September 2017

1 reference

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The diagnosis and understanding of apraxia of speech: why including neurodegenerative etiologies may be important

12 September 2017

1 reference

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

12 September 2017

1 reference

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Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

12 September 2017

1 reference

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Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

12 September 2017

1 reference

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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

12 September 2017

1 reference

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Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech

12 September 2017

1 reference

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Exploring concordance and discordance for return of incidental findings from clinical sequencing

12 September 2017

1 reference

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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

12 September 2017

1 reference

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Neocortical disruption and behavioral impairments in rats following in utero RNAi of candidate dyslexia risk gene Kiaa0319.

12 September 2017

1 reference

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Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.

12 September 2017

1 reference

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Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

12 September 2017

1 reference

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Genetics of speech and language disorders

12 September 2017

1 reference

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CNTNAP2 variants affect early language development in the general population

12 September 2017

1 reference

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Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia.

12 September 2017

1 reference

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

12 September 2017

1 reference

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Perceptual and acoustic reliability estimates for the Speech Disorders Classification System (SDCS).

12 September 2017

1 reference

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Extensions to the Speech Disorders Classification System (SDCS).

12 September 2017

1 reference

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Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment

12 September 2017

1 reference

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Foxp1 is an essential transcriptional regulator for the generation of quiescent naive T cells during thymocyte development.

12 September 2017

1 reference

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Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2

12 September 2017

1 reference

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A common variant associated with dyslexia reduces expression of the KIAA0319 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1.

12 September 2017

1 reference

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Genome-wide analyses of human perisylvian cerebral cortical patterning.

12 September 2017

1 reference

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Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

12 September 2017

1 reference

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No effect of genetic deletion of contactin-associated protein (CASPR) on axonal orientation and synaptic plasticity.

12 September 2017

1 reference

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A review of association and linkage studies for genetical analyses of learning disorders

12 September 2017

1 reference

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Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.

12 September 2017

1 reference

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The eloquent ape: genes, brains and the evolution of language

12 September 2017

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Molecular domains of myelinated axons

12 September 2017

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Contactin-associated protein (Caspr) and contactin form a complex that is targeted to the paranodal junctions during myelination.

12 September 2017

1 reference

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A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

12 September 2017

1 reference

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Developmental phonological disorders. I: A clinical profile

27 September 2017

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Investigation of disease outbreaks with genome sequencing

27 September 2017

1 reference

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Modifier genetics in neuropsychiatric disease: challenges and opportunities

30 May 2018

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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

30 May 2018

1 reference

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The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

30 May 2018

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Clinical relevance of cancer genome sequencing

21 January 2018

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Analysis of ancient human genomes: using next generation sequencing, 20-fold coverage of the genome of a 4,000-year-old human from Greenland has been obtained

21 January 2018

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Unravelling neurogenetic networks implicated in developmental language disorders

21 January 2018

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Phenotype of FOXP2 haploinsufficiency in a mother and son.

21 January 2018

1 reference

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Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Cellular form of prion protein inhibits Reelin-mediated shedding of Caspr from the neuronal cell surface to potentiate Caspr-mediated inhibition of neurite outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Genetic variant in KIAA0319, but not in DYX1C1, is associated with risk of dyslexia: an integrated meta-analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1866-1955-5-29

Evidence for distinct cognitive profiles in autism spectrum disorders and specific language impairment.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Functional analysis of PKD1 transgenic lines reveals a direct role for polycystin-1 in mediating cell-cell adhesion

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3851280

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24083349

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is preschool language impairment a risk factor for dyslexia in adolescence?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24083349

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24083349

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1866-1955-5-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24083349%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

26 February 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1866-1955-5-29

OpenCitations bibliographic resource ID

2052995

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2052995

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24083349%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

24083349

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24083349%20AND%20SRC:MED&resulttype=core&format=json