Keywords: شناسنامه، معلولیت ذهنی; IEP, individualized education program; ID, intellectual disability; IQR, interquartile range; MI, motivational interviewing; PAM, Patient Activation Measure; Phe, phenylalanine; PKU, phenylketonuria; SOC, stages of changePhenylketonuria; Motivational inte
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: شناسنامه، معلولیت ذهنی; FQOL, family quality of life; ASD, autistic spectrum disorder; ID, intellectual disability; CP, cerebral palsy; SNHL, sensorineural hearing loss; GMFCS, gross motor function classification scale; MACS, manual ability classification scaleFamily quality of
Keywords: شناسنامه، معلولیت ذهنی; RTS, Rubinstein–Taybi syndrome; ID, intellectual disability; IUGR, intrauterin growth retardationArray-CGH; Intellectual disability; Facial dysmorphisms; CREBBP; Microduplication; Rubinstein–Taybi
Keywords: شناسنامه، معلولیت ذهنی; ELBW, extremely low birthweight (< 1000 g); EP, extremely preterm; ID, intellectual disability; LD, learning disability; MLD, mathematics learning disability; MPC, Mental Processing Composite; RLD, reading learning disability; SEN, special educational nee
Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication
Keywords: شناسنامه، معلولیت ذهنی; 1q21.1-q21.3 duplication; Focal cortical dysplasia; Microcephaly; Epilepsy; Intellectual disabilityLOF, Loss-of-Function; CGH, Comparative Genomic Hybridization; ID, Intellectual Disability; SDs, Segmental Duplications; BPs, Breakpoints; TAR, Thrombocytop
Fragile X syndrome: Current insight
Keywords: شناسنامه، معلولیت ذهنی; ID, intellectual disability; FXS, fragile X syndrome; FMR1, Fragile X Mental Retardation 1; FMRP, Fragile X Mental Retardation Protein; UTR, untranslated region; PM, premutation; FM, full mutation; DNA, deoxyribo nucleic acid; FXTAS, Fragile X-associated
Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India
Keywords: شناسنامه، معلولیت ذهنی; ID, intellectual disability; GDD, global developmental delay; CNV, copy number variation; CMA, chromosomal microarray; MLPA, multiplex ligation-dependent probe amplification; FISH, fluorescence in situ hybridization; qPCR, Quantitative-PCR; ASD, Autism sp
CTNND2 deletion and intellectual disability
Keywords: شناسنامه، معلولیت ذهنی; ID, Intellectual disability; NDD, Neurodevelopmental disorder; CNV, Copy number variation; CMA, Chromosomal microarray analysis; Chr, ChromosomeCTNND2; Deletion; Intellectual; Disability; CNV
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Keywords: شناسنامه، معلولیت ذهنی; AADC, aromatic amino acid decarboxylase; AR, autosomal recessive; DDC, aromatic amino acid decarboxylase gene; CSF, cerebrospinal fluid; ID, intellectual disability; IQ, intelligence quotient; SNP, single nucleotide polymorphisms; WES, whole exome sequenc
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
Keywords: شناسنامه، معلولیت ذهنی; ATR, ataxia–telangiectasia and RAD3-related; BMI, Body mass index; CBC, complete blood count; CNV, copy number variation; DDR, DNA-damage response; DSB, Double-strand break; EGF, epidermal growth factor; ID, intellectual disability; Mb, megabase; MIM, Men
Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q)
Keywords: شناسنامه، معلولیت ذهنی; GDD, global developmental delay; ID, intellectual disability; ASD, autistic spectrum disorder; IQ, intelligence quotient; FISH, fluorescent in situ hybridization; MLPA, multiplex ligation dependent probe amplification; VIPR2, vasoactive intestinal peptide
How children with autism spectrum disorder behave and explore the 4-dimensional (spatial 3D + time) environment during a joint attention induction task with a robot
Keywords: شناسنامه، معلولیت ذهنی; ASD, autism spectrum disorder; ID, intellectual disability; ADI-R, Autism Diagnostic Interview-Revised; IQ, Intellectual Quotient; SD, Standard Deviation; 95% CI, 95% Confidence Interval; ICT, Information and Communications Technology; TD, typical develop
Expression of trisomic proteins in Down syndrome model systems
Keywords: شناسنامه، معلولیت ذهنی; DS, Down syndrome; HSA21, Human chromosome 21; ID, Intellectual disability; LCL, Lymphoblastoid cell lineTrisomy 21; Gene dosage; Protein expression; Ts65Dn; Tc1; Cortex
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation
Keywords: شناسنامه، معلولیت ذهنی; HL, hearing loss; AR, Autosomal recessive; NSHL, nonsyndromic hearing loss; ARNSHI, Autosomal recessive nonsyndromic hearing impairment; ID, intellectual disability; MR, mental retardation; NS-ARID, non-specific intellectual disability of autosomal recess
Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH
Keywords: شناسنامه، معلولیت ذهنی; CGH, Comparative genome hybridization; CNV, Copy number variation; aCGH, Array comparative genome hybridization; ID, Intellectual disability; DD, Developmental delay; PCR, Polymerase chain reaction; PWACR, Prader–Willi/Angelman Critical Region; MSPCR, Met
High resolution array in the clinical approach to chromosomal phenotypes
Keywords: شناسنامه، معلولیت ذهنی; AGH, array genomic hybridization; CNV, copy number variation; MCA, multiple congenital anomalies; MA, minor anomalies; DD, developmental delay; ID, intellectual disability; ASD, autism spectrum disorders; FISH, fluorescence in situ hybridizationArray geno
Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the “extended” phenotype
Keywords: شناسنامه، معلولیت ذهنی; array-CGH, array Comparative Genome Hybridization; DD, Developmental Delay; MR, Mental Retardation; ID, Intellectual Disability; MRI, Magnetic Resonance Imaging; EEG, Electroencephalogram; GH, growth hormone; OFC, Occipitofrontal Circumference; U/S, ultra
Copy number variations in neurodevelopmental disorders
Keywords: شناسنامه، معلولیت ذهنی; CNV, copy number variant; ID, Intellectual disability; IGE, epilepsy; ASD, autism spectrum disorders; ADHD, attention deficit hyperactivity disorder; ODD, oppositional defiant disorder; OCD, obsessive compulsive disorder; BPD, bipolar disorder; NDD, neuro
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
Keywords: شناسنامه، معلولیت ذهنی; ASDs, autism spectrum disorders; CNV, copy number variation; ID, intellectual disability; PDD-NOS, pervasive developmental disorder not otherwise specifiedAutism; Intellectual disability; Mutation; Copy number variation; Deletion; Duplication
Measuring energy expenditure and body composition in children with neurological impairment and intellectual disability using the doubly labeled water method: Comparing urine and saliva sampling
Keywords: شناسنامه، معلولیت ذهنی; Child; Neurological impairment; Sampling; Urine; Saliva; Doubly labeled water methodCP, cerebral palsy; DLW, doubly labeled water; TEE, total energy expenditure; TBW, total body water; ID, intellectual disability; GMFCS, gross motor functioning classifica
Self-Injury among a Community Cohort of Young Children at Risk for Intellectual and Developmental Disabilities
Keywords: شناسنامه، معلولیت ذهنی; CBCL, Child Behavior Checklist; CDI, Child Development Inventory; ICAP, Inventory for Client and Agency Planning; ID, Intellectual disability
Dual-Energy X-Ray Absorptiometry to Measure the Influence of a 16-Week Community-Based Swim Training Program on Body Fat in Children and Adolescents With Intellectual Disabilities
Keywords: شناسنامه، معلولیت ذهنی; Absorptiometry, photon; Body composition; Rehabilitation; SwimmingACSM, American College of Sports Medicine; DXA, dual-energy x-ray absorptiometry; ID, intellectual disability
Prevalence of Developmental Disabilities and Receipt of Special Education Services among Children with an Inborn Error of Metabolism
Keywords: شناسنامه، معلولیت ذهنی; CP, Cerebral palsy; DG, Duarte variant galactosemia; GAL, Classical galactosemia; HCY, Homocystinuria; ID, Intellectual disability; MADDSP, Metropolitan Atlanta Developmental Disabilities Surveillance Program; MSUD, Maple syrup urine disorder; PKU, Phenyl
Oxidative stress and cognitive ability in adults with Down syndrome
Keywords: شناسنامه، معلولیت ذهنی; ABAS, adaptive behaviour assessment scale; BPVS, British picture vocabulary scale; CBS, cystathionine β synthase; DMR, Dementia Questionnaire for Persons with Mental Retardation; DS, Down syndrome; GPx, glutathione peroxidase; ID, intellectual disability;
Antioxidant status in the serum of persons with intellectual disability and hypothyroidism: A pilot study
Keywords: شناسنامه، معلولیت ذهنی; AOD, antioxidative defense; HPO, hypothyroidism; GSH-Px, glutathione peroxidase; GR, glutathione reductase; ROS, reactive oxygen species; ID, intellectual disability; SOD, superoxide dismutaseIntellectual disability; Hypothyroidism; Oxidative stress; Anti