(Q21198697)

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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication (English)

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haploinsufficiency

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SH3 and multiple ankyrin repeat domains 3

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GOA release 2020-03-11

vocalization behavior

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GOA release 2020-03-11

SH3 and multiple ankyrin repeat domains 3

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GOA release 2020-03-11

social interaction

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based on heuristic

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Maria Luisa Scattoni

object named as

Maria Luisa Scattoni

10

author given names

Maria Luisa

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Scattoni

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Dimensions Publication ID

18 August 2022

object named as

Joseph D Buxbaum

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author given names

Joseph D

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Buxbaum

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Dimensions Publication ID

18 August 2022

object named as

Mark J Harris

11

author given names

Mark J

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Harris

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18 August 2022

object named as

Yuji Kajiwara

7

author given names

Yuji

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Kajiwara

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18 August 2022

16

object named as

Patrick R Hof

author given names

Patrick R

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Hof

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18 August 2022

1

object named as

Ozlem Bozdagi

author given names

Ozlem

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Bozdagi

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Dimensions Publication ID

18 August 2022

Nagahide Takahashi

6

object named as

Nagahide Takahashi

author given names

Nagahide

author last names

Takahashi

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Dimensions Publication ID

18 August 2022

Jill L Silverman

13

object named as

Jill L Silverman

author given names

Jill L

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Silverman

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Dimensions Publication ID

18 August 2022

Dara L Dickstein

5

object named as

Dara L Dickstein

author given names

Dara L

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Dickstein

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Dimensions Publication ID

18 August 2022

12

object named as

Roheeni Saxena

author given names

Roheeni

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Saxena

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18 August 2022

author name string

Takeshi Sakurai

2

author given names

Takeshi

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Sakurai

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18 August 2022

Danae Papapetrou

3

author given names

Danae

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Papapetrou

1 reference

Dimensions Publication ID

18 August 2022

Xiaobin Wang

4

author given names

Xiaobin

author last names

Wang

1 reference

Dimensions Publication ID

18 August 2022

Mu Yang

8

author given names

Mu

author last names

Yang

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Dimensions Publication ID

18 August 2022

Adam M Katz

9

author given names

Adam M

author last names

Katz

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Dimensions Publication ID

18 August 2022

Jacqueline N Crawley

14

author given names

Jacqueline N

author last names

Crawley

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Dimensions Publication ID

18 August 2022

Qiang Zhou

15

author given names

Qiang

author last names

Zhou

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

2010

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Molecular Autism

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1

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1

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15

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Functional impact of global rare copy number variation in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

The neurotrophin-inducible gene Vgf regulates hippocampal function and behavior through a brain-derived neurotrophic factor-dependent mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Deletion 22q13.3 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Contribution of SHANK3 mutations to autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Persistence of coordinated long-term potentiation and dendritic spine enlargement at mature hippocampal CA1 synapses requires N-cadherin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

The Shank family of scaffold proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Agonist-dependent interaction of the rat somatostatin receptor subtype 2 with cortactin-binding protein 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Sociability and motor functions in Shank1 mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Shank 2 expression coincides with neuronal differentiation in the developing retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Unusual repertoire of vocalizations in the BTBR T+tf/J mouse model of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Automated three-dimensional detection and shape classification of dendritic spines from fluorescence microscopy images

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Subunit-specific rules governing AMPA receptor trafficking to synapses in hippocampal pyramidal neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

19 March 2017

Rayburst sampling, an algorithm for automated three-dimensional shape analysis from laser scanning microscopy images

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

6 April 2017

Structural basis of long-term potentiation in single dendritic spines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

AMPA receptor trafficking and synaptic plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

Conserved role of intragenic DNA methylation in regulating alternative promoters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

Behavioural phenotyping assays for mouse models of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

Transient and persistent dendritic spines in the neocortex in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

Recycling endosomes supply AMPA receptors for LTP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

The mGluR theory of fragile X mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

PSD-95 involvement in maturation of excitatory synapses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

7 April 2017

Regulation of dendritic spine morphology and synaptic function by Shank and Homer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

10 May 2017

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Unusual repertoire of vocalizations in adult BTBR T+tf/J mice during three types of social encounters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Simple behavioral assessment of mouse olfaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Spine expansion and stabilization associated with long-term potentiation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

An update on pharmacologic treatments for autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Postsynaptic signaling and plasticity mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Interaction of G-protein-coupled receptors with synaptic scaffolding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Marking synaptic activity in dendritic spines with a calpain substrate exhibiting fluorescence resonance energy transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

12 September 2017

Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

27 September 2017

Postsynaptic density-95 mimics and occludes hippocampal long-term potentiation and enhances long-term depression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

30 May 2018

Genetics and neuropsychiatric disorders: treatment during adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

Novel de novo SHANK3 mutation in autistic patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

GluR1 links structural and functional plasticity at excitatory synapses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

New techniques for imaging, digitization and analysis of three-dimensional neural morphology on multiple scales.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

Determination of absolute protein numbers in single synapses by a GFP-based calibration technique.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

Postsynaptic density 95 controls AMPA receptor incorporation during long-term potentiation and experience-driven synaptic plasticity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

Synaptic localization of SAPAP1, a synaptic membrane-associated protein

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3019144

29 November 2018

Glutamate receptors put in their place

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role for Rapid Dendritic Protein Synthesis in Hippocampal mGluR-Dependent Long-Term Depression

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrasonic vocalizations during sex behavior of male house mice (Mus musculus): a description

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167025

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/2040-2392-1-15

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Consolidated OpenCitations Corpus – April 2017

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Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/2040-2392-1-15

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

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