| Item Type | Name |
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Concept
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Intellectual Disability
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Concept
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Fragile X Mental Retardation Protein
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Concept
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Mental Retardation, X-Linked
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Academic Article
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
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Academic Article
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Fragile X gene expansions are not associated with dementia.
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Academic Article
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Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
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Academic Article
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
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Academic Article
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FMR1 gray-zone alleles: association with Parkinson's disease in women?
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Academic Article
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Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
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Academic Article
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
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Academic Article
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Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype?
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Academic Article
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
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Academic Article
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Neuropathic features in fragile X premutation carriers.
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Academic Article
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Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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Academic Article
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
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Academic Article
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Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
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Academic Article
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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
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Academic Article
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Fibroblast phenotype in male carriers of FMR1 premutation alleles.
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Academic Article
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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
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Academic Article
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
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Academic Article
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Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.
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Academic Article
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
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Academic Article
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The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
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Academic Article
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Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
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Academic Article
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The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions.
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Academic Article
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Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
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Academic Article
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White matter disease and cognitive impairment in FMR1 premutation carriers.
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Academic Article
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Improving IQ measurement in intellectual disabilities using true deviation from population norms.
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Academic Article
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
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Academic Article
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Newborn, carrier, and early childhood screening recommendations for fragile X.
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Academic Article
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Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice.
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Academic Article
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Fragile X syndrome and targeted treatment trials.
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Academic Article
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Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
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Academic Article
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Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
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Academic Article
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Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
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Academic Article
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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
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Academic Article
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Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.
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Academic Article
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Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
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Academic Article
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Methylation analysis of the fragile X syndrome by PCR.
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Academic Article
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Neurological and endocrine phenotypes of fragile X carrier women.
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Academic Article
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A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes.
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Academic Article
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A review of fragile X premutation disorders: expanding the psychiatric perspective.
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Academic Article
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Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome.
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Academic Article
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Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
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Academic Article
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Aging in individuals with the FMR1 mutation.
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Academic Article
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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
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Academic Article
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Epilepsy in fragile X syndrome.
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Academic Article
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Cyclic AMP metabolism in fragile X syndrome.
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Academic Article
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X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
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Academic Article
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Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
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Academic Article
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Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome.
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Academic Article
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Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
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Academic Article
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Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells.
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Academic Article
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Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
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Academic Article
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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
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Academic Article
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Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.
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Academic Article
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Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.
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Academic Article
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Validation of the NIH Toolbox Cognitive Battery in intellectual disability.
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Academic Article
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Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
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Academic Article
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Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
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Academic Article
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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
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Academic Article
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Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.
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Academic Article
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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
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Academic Article
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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation.
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Academic Article
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Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial.
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Academic Article
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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
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Academic Article
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Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
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Academic Article
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Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
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Academic Article
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Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
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Academic Article
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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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Academic Article
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Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies.
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Academic Article
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Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.
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Academic Article
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Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
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Academic Article
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Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
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Academic Article
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A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
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Academic Article
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Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.
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Academic Article
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Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
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Academic Article
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Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP.
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Academic Article
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FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.
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Academic Article
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Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
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Academic Article
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The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
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Academic Article
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Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education.
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Academic Article
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Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
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