Reference health
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
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63/63 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
12 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 63 checked references that resolve
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resolves10.1371/journal.pgen.1002334
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism
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Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease
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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
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resolves10.1038/ng.149
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resolves10.1371/journal.pgen.1000381
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
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resolves10.1038/nrn3120
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
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Validation of a Brief Quantitative Measure of Autistic Traits: Comparison of the Social Responsiveness Scale with the Autism Diagnostic Interview-Revised
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resolves10.1542/peds.2006-1231
Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening
resolves10.1097/GIM.0b013e3181f8baad
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The 12 references without a DOI — listed, not checked
no DOI — not checkedDiagnosis of developmental disabilities
no DOI — not checkedThe epidemiology of developmental disabilities
no DOI — not checkedMinimal brain dysfunction
no DOI — not checked10.1016/S1474-4422(13)70011-5_bib16
no DOI — not checkedSyndromes of minimal brain dysfunction in children
no DOI — not checkedPossible contributions of the study of organically retarded persons to developmental theory
no DOI — not checkedApplying the developmental perspective to Down syndrome
no DOI — not checkedA Neurodevelopmental perspective on the continuum of developmental disabilities
no DOI — not checkedUsing large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts
no DOI — not checked10.1016/S1474-4422(13)70011-5_bib70
no DOI — not checkedRevised neurological examination for subtle signs (1985)
no DOI — not checked10.1016/S1474-4422(13)70011-5_bib73
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