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Disease gene identification strategies for exome sequencing
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PubMed
title
Disease gene identification strategies for exome sequencing
(English)
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stated in
PubMed
author
Christian Gilissen
object named as
Christian Gilissen
series ordinal
1
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Joris A Veltman
object named as
Joris A Veltman
series ordinal
4
0 references
Alexander Hoischen
series ordinal
2
object named as
Alexander Hoischen
1 reference
stated in
Crossref
Han G. Brunner
series ordinal
3
object named as
Han G Brunner
1 reference
stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
May 2012
1 reference
stated in
PubMed
published in
European Journal of Human Genetics
1 reference
stated in
PubMed
volume
20
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stated in
PubMed
issue
5
1 reference
stated in
PubMed
page(s)
490-7
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stated in
PubMed
cites work
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation
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PubMed Central
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21 March 2017
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
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PubMed Central
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21 March 2017
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
retrieved
21 March 2017
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing reveals VCP mutations as a cause of familial ALS
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21 March 2017
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Whole-exome-sequencing-based discovery of human FADD deficiency
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
A map of human genome variation from population-scale sequencing
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330229
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21 March 2017
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
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PubMed Central
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21 March 2017
Clinical assessment incorporating a personal genome
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PubMed Central
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21 March 2017
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
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PubMed Central
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21 March 2017
Exome sequencing identifies the cause of a mendelian disorder
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PubMed Central
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21 March 2017
Targeted capture and massively parallel sequencing of 12 human exomes
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21 March 2017
A method and server for predicting damaging missense mutations
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21 March 2017
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome
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21 March 2017
Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese
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PubMed Central
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21 March 2017
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
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21 March 2017
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
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21 March 2017
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
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PubMed Central
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21 March 2017
Genetic heterogeneity in human disease
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21 March 2017
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
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PubMed Central
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21 March 2017
SIFT: Predicting amino acid changes that affect protein function
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7 April 2017
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1
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7 April 2017
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
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7 April 2017
MutationTaster evaluates disease-causing potential of sequence alterations
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7 April 2017
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
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7 April 2017
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
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Identification of the cystic fibrosis gene: genetic analysis
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7 April 2017
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
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28 September 2017
Exome sequencing supports a de novo mutational paradigm for schizophrenia.
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28 September 2017
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
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28 September 2017
What can exome sequencing do for you?
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28 September 2017
Whole-genome sequencing for optimized patient management
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28 September 2017
Recessive LAMC3 mutations cause malformations of occipital cortical development
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28 September 2017
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
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28 September 2017
A decade's perspective on DNA sequencing technology
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28 September 2017
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa
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28 September 2017
A guide to web tools to prioritize candidate genes
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28 September 2017
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
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28 September 2017
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
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28 September 2017
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
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28 September 2017
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
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Massively parallel sequencing and rare disease
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28 September 2017
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
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Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
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Rethinking the genetic architecture of schizophrenia.
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28 September 2017
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations
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28 September 2017
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
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28 September 2017
Target-enrichment strategies for next-generation sequencing
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28 September 2017
Linking genes to diseases: it's all in the data.
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28 September 2017
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
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28 September 2017
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes
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28 September 2017
Gene prioritization through genomic data fusion
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28 September 2017
Mendelian disorders deserve more attention
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28 September 2017
Identification of disease genes by whole genome CGH arrays
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28 September 2017
Haploinsufficiency of NSD1 causes Sotos syndrome
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A de novo paradigm for mental retardation.
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
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21 January 2018
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
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Performance of mutation pathogenicity prediction methods on missense variants
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Increased exonic de novo mutation rate in individuals with schizophrenia
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retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1038/EJHG.2011.258
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1834186
Dimensions Publication ID
1020650713
0 references
Fatcat ID
release_u6244d3zq5btlni4ra4wvlxzqm
0 references
OpenCitations bibliographic resource ID
1834186
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1834186
PMC publication ID
3330229
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1834186
PubMed publication ID
22258526
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1834186
ResearchGate publication ID
221760242
0 references
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