Search results for "EBP"

showing 10 items of 105 documents

The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

2013

Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…

MaleLinkage disequilibrium:Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]Polimorfismo de nucleótido simpleSLElcsh:MedicineAutoimmunityGenome-wide association studyLinkage DisequilibriumScleroderma:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Gene Frequency:Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group [Medical Subject Headings]Risk FactorsIRF5Genetics of the Immune SystemLupus Erythematosus Systemic:Diseases::Skin and Connective Tissue Diseases::Skin Diseases::Scleroderma Systemic [Medical Subject Headings]skin and connective tissue diseaseslcsh:ScienceMultidisciplinary:Diseases::Immune System Diseases::Autoimmune Diseases::Lupus Erythematosus Systemic [Medical Subject Headings]Predisposición genética a la enfermedad:Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings]PhenotypeInterferon Regulatory FactorsSYSTEMIC SCLEROSISMedicineEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]FemaleIRF5; SLE; TYPE I INTERFERON; SYSTEMIC SCLEROSISHaplotiposResearch ArticleFactores de riesgoImmunology:Chemicals and Drugs::Amino Acids Peptides and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins Signal Transducing::Interferon Regulatory Factors [Medical Subject Headings]:Check Tags::Male [Medical Subject Headings]:Health Care::Environment and Public Health::Public Health::Epidemiologic Factors::Causality::Risk Factors [Medical Subject Headings]Single-nucleotide polymorphismHuman leukocyte antigenBiologyPolymorphism Single NucleotideWhite PeopleAutoimmune DiseasesRheumatologyLupus eritematoso sistémicoGeneticsHumansGenetic Predisposition to DiseaseGrupo de ascendencia continental europeaAlleleBiologyAllele frequencyAllelesGenetic Association Studies:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]Scleroderma SystemicHaplotypelcsh:R:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci [Medical Subject Headings]Human Genetics:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]Factores reguladores del interferónHaplotypesDesequilibrio de ligamiento:Check Tags::Female [Medical Subject Headings]Genetic LociTYPE I INTERFERONGenetics of DiseaseImmunologyGenetic PolymorphismClinical Immunologylcsh:Q:Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]Population GeneticsIRF5PLoS ONE
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Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association…

2007

Contains fulltext : 52515.pdf (Publisher’s version ) (Closed access) BACKGROUND: Previous research found an association between single nucleotide polymorphisms (SNPs) in the promoter region of DRD4 and statistically derived phenotypes generated from attention-deficit/hyperactivity disorder (ADHD) symptoms. We sought to replicate this finding by using the same methodology in an independent sample of ADHD individuals. METHODS: Four SNPs were genotyped in and around DRD4 in 2631 individuals in 642 families. We developed a quantitative phenotype at each SNP by weighting nine inattentive and nine hyperactive-impulsive symptoms. The weights were selected to maximize the heritability at each SNP. …

MaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Databases FactualMedizinNeuroinformatics [DCN 3]Severity of Illness Index0302 clinical medicinePerception and Action [DCN 1]Determinants in Health and Disease [EBP 1]ChildPromoter Regions GeneticGenetics0303 health sciencesEuropePhenotypeChild PreschoolFemalemedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescentSingle-nucleotide polymorphismQuantitative trait locusImpulsivityMental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesQuantitative Trait HeritableCognitive neurosciences [UMCN 3.2]Genetic modelmental disordersmedicineAttention deficit hyperactivity disorderSNPHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological Psychiatry030304 developmental biologyFamily HealthReceptors Dopamine D4Heritabilitymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryBiological psychiatry
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Population differences in the International Multi-Centre ADHD Gene Project.

2008

Contains fulltext : 71443.pdf (Publisher’s version ) (Closed access) The International Multi-Centre ADHD Gene sample consists of 674 families from eight countries (Belgium, England, Germany, Holland, Ireland, Israel, Spain, and Switzerland) ascertained from clinics for combined-type attention definity hyperactivity disorder in an offspring. 863 SNPs were successfully genotyped across 47 autosomal genes implicated in psychiatric disorders yielding a single nucleotide polymorphism (SNP) density of approximately one SNP per 2.5 kb. A global test of heterogeneity showed 269 SNPs nominally significant (expected 43). Inclusion of the Israeli population accounted for approximately 70% of these nom…

MaleLinkage disequilibriumInternationalityGenetics and epigenetic pathways of disease [NCMLS 6]EpidemiologyMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium0302 clinical medicineGene FrequencyPerception and Action [DCN 1]International HapMap ProjectIsraelChildGenetics (clinical)0303 health scienceseducation.field_of_studyChromosome MappingSDG 10 - Reduced Inequalities10058 Department of Child and Adolescent PsychiatryGeographyChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/reduced_inequalitiesFemaleFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)AdolescentPopulationSample (statistics)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideWhite PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]SNPHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendalterseducationGene030304 developmental biologyGenetic VariationGenetics PopulationGenetic defects of metabolism [UMCN 5.1]HaplotypesSample size determinationAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryDemography2713 Epidemiology
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A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver.: ThB …

2011

International audience; Peroxisomal 3-ketoacyl-CoA thiolase B (Thb) catalyzes the final step in the peroxisomal β-oxidation of straight-chain acyl-CoAs and is under the transcription control of the nuclear hormone receptor PPARα. PPARα binds to and is activated by the synthetic compound Wy14,643 (Wy). Here, we show that the magnitude of Wy-mediated induction of peroxisomal β-oxidation of radiolabeled (1-(14)C) palmitate was significantly reduced in mice deficient for Thb. In contrast, mitochondrial β-oxidation was unaltered in Thb(-/-) mice. Given that Wy-treatment induced Acox1 and MFP-1/-2 activity at a similar level in both genotypes, we concluded that the thiolase step alone was respons…

MaleMESH: HepatomegalyPalmitatesMESH : PyrimidinesMESH : Gene DeletionBiochemistryelement-binding proteinsMESH : Acetyl-CoA C-AcyltransferaseMiceMESH: Up-RegulationMESH: AnimalsMESH : Up-RegulationMESH: Lipid Metabolism0303 health sciencesMESH : Gene Expression RegulationThiolase030302 biochemistry & molecular biologyGeneral MedicineMESH : HepatomegalyUp-Regulationzellweger-syndromePeroxisome ProliferatorsMESH: Peroxisome ProliferatorsHepatomegalySterol Regulatory Element Binding Protein 2peroxisomal 3-ketoacyl-CoA thiolase BMESH: Mitochondria3-oxoacyl-coa thiolaseLathosterolfatty-acid oxidationrat-liverMESH: Sterol Regulatory Element Binding Protein 203 medical and health sciencesMESH : Sterol Regulatory Element Binding Protein 2HumansPPAR alphaMESH : Peroxisome Proliferators[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular BiologyPPARaVLAGMESH : Oxidation-ReductionFatty Acid Oxidation.MESH: HumansCholesterolMESH : HumanscholesterolLipid MetabolismMESH: PeroxisomesSterol regulatory element-binding proteinchemistryMESH: PyrimidinesCholesterol; Micro-array analysis; Peroxisomal 3-ketoacyl-CoA thiolase B; PPARα and SREBP-2; Wy14643Fatty Acid OxidationGene DeletionMESH: LiverMESH: Oxidation-ReductionMESH: Signal TransductionMESH: Mice KnockoutVoeding Metabolisme en Genomicachemistry.chemical_compoundMESH: CholesterolMESH : Lipid MetabolismWy14MESH : PalmitatesMESH: PPAR alphaMESH : CholesterolMice Knockoutneuronal migration643PeroxisomeAcetyl-CoA C-AcyltransferaseMESH: Gene Expression RegulationMetabolism and GenomicsMitochondriaLiverBiochemistryMicro-array analysisMetabolisme en GenomicaACOX1Nutrition Metabolism and GenomicsMESH : MitochondriaOxidation-ReductionSignal Transductionacyl-coa oxidasecholesterol-synthesisMESH : MaleMESH : PPAR alphaPeroxisome ProliferationPPARα and SREBP-2Biologybeta-oxidationVoedingproliferator-activated receptorsMESH : MicePeroxisomesAnimals[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyMESH: Mice030304 developmental biologySCP2NutritionMESH : Signal TransductionMESH : LiverMESH: PalmitatesMESH: MalePyrimidinesMESH: Acetyl-CoA C-AcyltransferaseGene Expression RegulationMESH: Gene DeletionMESH : Mice KnockoutMESH : AnimalsMESH : Peroxisomes
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Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approa…

2010

Contains fulltext : 88211.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom sc…

MaleMedizinGenome-wide association studyComorbidityPersonality Assessment0302 clinical medicineDevelopmental and Educational PsychologyPerception and Action [DCN 1]GENETIC INFLUENCESChildGENERAL-POPULATION0303 health sciencesMental Health [NCEBP 9]CommunicationChromosome MappingPsychiatry and Mental healthcomorbidityAutism spectrum disorderFemalePsychologylinkageFunctional Neurogenomics [DCN 2]TRAITSmedicine.medical_specialtyAdolescentPsychometricsSUSCEPTIBILITY LOCIDEFICIT HYPERACTIVITY DISORDERQuantitative Trait Lociautism spectrum disorderQuantitative trait locusPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleTWIN SAMPLEGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesGenetic linkagemental disordersmedicinePervasive developmental disorderAttention deficit hyperactivity disorderADHDHumansGenetic Predisposition to DiseaseGenetic TestingSOCIAL-BEHAVIORPsychiatrySocial Behavior030304 developmental biologyChromosome AberrationsChromosomes Human Pair 15PERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseHOMEOBOX-TRANSCRIPTION-FACTORDevelopmental disorderAttention Deficit Disorder with HyperactivityChild Development Disorders PervasiveAutismLod ScoreChromosomes Human Pair 18030217 neurology & neurosurgeryChromosomes Human Pair 16SCANGenome-Wide Association Study
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Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

2010

Contains fulltext : 89305.pdf (Publisher’s version ) (Closed access) Smoking is a common risk factor for many diseases. We conducted genome-wide association meta-analyses for the number of cigarettes smoked per day (CPD) in smokers (n = 31,266) and smoking initiation (n = 46,481) using samples from the ENGAGE Consortium. In a second stage, we tested selected SNPs with in silico replication in the Tobacco and Genetics (TAG) and Glaxo Smith Kline (Ox-GSK) consortia cohorts (n = 45,691 smokers) and assessed some of those in a third sample of European ancestry (n = 9,040). Variants in three genomic regions associated with CPD (P < 5 x 10(-8)), including previously identified SNPs at 15q25 repre…

MaleNetherlands Twin Register (NTR)Lung NeoplasmsSingle-nucleotide polymorphismGenome-wide association studyAetiology screening and detection [ONCOL 5]Receptors NicotinicGenetic analysisArticleMolecular epidemiology [NCEBP 1]Cohort Studies03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingOdds RatioGeneticsmedicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansCYP2A6Lung cancerAlleles030304 developmental biologyGenetics0303 health sciencesbiologyCHRNA6CHRNA5Hormonal regulation [IGMD 6]SmokingGenetic VariationGenomicsTobacco Use DisorderOdds ratiomedicine.disease3. Good healthPhenotypeEvaluation of complex medical interventions [NCEBP 2]genome-wide association nicotinic acetylcholine-receptors lung-cancer susceptibility locus molecular-genetics heavy smoking adult twins dependence genes snpsbiology.protein/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleAryl Hydrocarbon Hydroxylases030217 neurology & neurosurgeryGenome-Wide Association Study
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Cotransmission of conduct problems with attention-deficit/hyperactivity disorder: familial evidence for a distinct disorder

2008

Contains fulltext : 69215.pdf (Publisher’s version ) (Closed access) Common disorders of childhood and adolescence are attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder (ODD) and conduct disorder (CD). For one to two cases in three diagnosed with ADHD the disorders may be comorbid. However, whether comorbid conduct problems (CP) represents a separate disorder or a severe form of ADHD remains controversial. We investigated familial recurrence patterns of the pure or comorbid condition in families with at least two children and one definite case of DSM-IV ADHDct (combined-type) as part of the International Multicentre ADHD Genetics Study (IMAGE). Using case diagno…

MaleNeurologyPsychometricsGenetics and epigenetic pathways of disease [NCMLS 6]MedizinComorbidityNeuroinformatics [DCN 3]Severity of Illness Index2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]ChildAge Factors10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental health2728 Neurology (clinical)NeurologyConduct disorderFemalePsychology2803 Biological PsychiatryFunctional Neurogenomics [DCN 2]Clinical psychologyConduct Disordermedicine.medical_specialtyAdolescentPsychometrics610 Medicine & healthMental health [NCEBP 9]behavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]Severity of illnessmental disordersmedicineAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological PsychiatryFamily HealthReproducibility of Resultsmedicine.diseaseComorbidity030227 psychiatryHyperkinetic disorderGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityRelative risk2808 NeurologyMultivariate AnalysisNeurology (clinical)030217 neurology & neurosurgeryJournal of Neural Transmission
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Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.

2008

Contains fulltext : 70497.pdf (Publisher’s version ) (Closed access) Studies of gene x environment (G x E) interaction in ADHD have previously focused on known risk genes for ADHD and environmentally mediated biological risk. Here we use G x E analysis in the context of a genome-wide association scan to identify novel genes whose effects on ADHD symptoms and comorbid conduct disorder are moderated by high maternal expressed emotion (EE). SNPs (600,000) were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. ADHD symptom severity and comorbid conduct disorder was measured using the Parental Account of Ch…

MaleParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceHostilityNeuroinformatics [DCN 3]2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Gene–environment interactionParent-Child RelationsChildGenetics (clinical)NeuregulinsbiologySLC1A1Intracellular Signaling Peptides and Proteins10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthExpressed EmotionExcitatory Amino Acid Transporter 3Conduct disorderChild PreschoolFemalemedicine.symptomFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)AdolescentQuantitative Trait Loci610 Medicine & healthSingle-nucleotide polymorphismContext (language use)Mental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]Interviews as Topic03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicineExpressed emotionHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAllelesProbabilityModels Geneticbusiness.industryGenome Humanmedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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First results of a European multi-center registry of patients with anorectal malformations.

2013

Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…

MalePediatricsmedicine.medical_specialtyPatient characteristicsComorbidityGenomic disorders and inherited multi-system disorders [IGMD 3]Anus ImperforatePostoperative ComplicationsEnvironmental riskHealth careFemale patientmedicineHumansAbnormalities MultipleRegistriesRetrospective StudiesChromosome Aberrationsbusiness.industryIncidence (epidemiology)IncidenceInfant NewbornUrogenital AbnormalityGeneral MedicineSyndromeHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Anorectal MalformationsEuropeTreatment OutcomeHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]Urogenital AbnormalitiesPediatrics Perinatology and Child HealthCohortEtiologySurgeryFemalebusiness
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Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth

2008

Contains fulltext : 70196.pdf (Publisher’s version ) (Closed access) Season of birth (SOB) has been associated with attention deficit hyperactivity disorder (ADHD) in two existing studies. One further study reported an interaction between SOB and genotypes of the dopamine D4 receptor (DRD4) gene. It is important that these findings are further investigated to confirm or refute the findings. In this study, we investigated the SOB association with ADHD in four independent samples collected for molecular genetic studies of ADHD and found a small but significant increase in summer births compared to a large population control dataset. We also observed a significant association with the 7-repeat…

MaleProbandLinkage disequilibriumSeason of birthGenetics and epigenetic pathways of disease [NCMLS 6]MedizinPhysiologyNeuroinformatics [DCN 3]Mental health [NCEBP 9]Linkage DisequilibriumGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineCognitive neurosciences [UMCN 3.2]mental disordersmedicineDopamine receptor D4Perception and Action [DCN 1]HumansAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleGene–environment interactionChildAllelesGenetics (clinical)biologyReceptors Dopamine D4Parturitionmedicine.disease030227 psychiatry3. Good healthPsychiatry and Mental healthVariable number tandem repeatGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityChild Preschoolbiology.proteinFemaleSeasonsFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgery
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