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  • 1-10 of  134 نتائج ل ""Disability""

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Academic Journal

Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability

Subjects: Brain development; Coffin-Lowry syndrome; Cognitive development

  • Source: ISSN: 0969-9961.

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Academic Journal

Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders

Subjects: autism spectrum disorders; copy number variation; intellectual disability

  • Source: ISSN: 1662-4548.

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Academic Journal

Effect of mirror therapy in the treatment of phantom limb pain in amputees: A systematic review of randomized placebo controlled trials does not find any evidence of efficacy

Subjects: Mirror therapy; Phantom limb; Amputee

  • Source: ISSN: 1090-3801.

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Academic Journal

Differences in Disability Perception in Systemic Sclerosis: A Mirror Survey of Patients and Health Care Providers

Subjects: activity limitations; disability; patient-reported outcomes

  • Source: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://u-paris.hal.science/hal-04096272 ; Journal of Clinical Medicine, 2023, 12 (4), pp.1-10. ⟨10.3390/jcm12041359⟩.

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Academic Journal

The recurrent TCF4 missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

Subjects: PTHS; Pitt-Hopkins syndrome; TCF4

  • Source: ISSN: 0009-9163.

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Academic Journal

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Subjects: Autism; ClinGen; Gene–disease validity

  • Source: https://inserm.hal.science/inserm-03816347 ; 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩.

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Academic Journal

How Do Clinical and Socioeconomic Factors Impact on Work Disability in Early Axial Spondyloarthritis? Five-year Data from the DESIR Cohort

Subjects: adverse work outcomes; axSpA; disease activity

  • Source: ISSN: 1462-0324.

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Academic Journal

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Subjects: PP2A; PPP2R4; PTPA

  • Source: ISSN: 0006-8950.

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Academic Journal

Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

Subjects: genome sequencing; intellectual disability; cost-effectiveness

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://hal.science/hal-03610031 ; Frontiers in Genetics, 2022, 12, pp.766964. ⟨10.3389/fgene.2021.766964⟩.

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Academic Journal

The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

Subjects: cost-effectiveness; genome sequencing; intellectual disability

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://amu.hal.science/hal-03678712 ; Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩.

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  • 1-10 of  134 نتائج ل ""Disability""