دانلود مقالات ISI درباره Dd, Developmental Delay + ترجمه فارسی

Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability

Keywords: Intellectual disability; Microduplication; XIAP; STAG2; Genome-wide array analysisCASP3, cell-death proteases, caspase-3; CASP7, caspase-7; CNVs, copy number variations; DAPI, 40,6-diamidino-2-phenylindole; DD, developmental delay; FISH, fluorescence in s

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

Keywords: AED, antiepileptic medication; AMP, adenosine monophosphate; ASNase, asparaginase; ASNS, asparagine synthetase; ATP, adenosine triphosphate; CSF, cerebral spinal fluid; DD, developmental delay; DMEM, Dulbecco's modified Eagle medium; EEG, electroencephalo

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature

Keywords: ASD, atrial septal defect; BAC, bacterial artificial chromosome; CNV, copy number variation; CREBBP, cyclic AMP response element binding protein; DD, developmental delay; DQ, development quotient; dUTP, deoxyuridine triphosphate; F, female; FISH, fluoresc

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

Keywords: ARSA, arylsulfatase A; DD, developmental delay; LI, late infantile; MLD, metachromatic leukodystrophy; MRI, magnetic resonance imaging; Pd, pseudodeficiency; PCR, polymerase chain reaction; WM, white matterArylsulfatase A; Metachromatic leukodystrophy; Ly

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms

Keywords: MLPA, multiplex ligation-dependent probe amplification; DS, Down syndrome; MDS, Miller–Dieker syndrome; CT, computed tomography; CNV, copy number variation; MR, mental retardation; DD, developmental delay; CMA, chromosomal microarray; ID, intellectual dis

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

High resolution array in the clinical approach to chromosomal phenotypes

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the “extended” phenotype

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه

Insular volume reduction in fragile X syndrome

Keywords: FraX, Fragile X syndrome; FMR1, Fragile X Mental Retardation 1; MRI, Magnetic resonance imaging; HC, typically developing control subjects; DD, developmental delay; IQ, intelligence; WISC, Wechsler Intelligence Scale for Children; WAIS, Wechsler Adult Int

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Neuregulin-1, the fetal endothelium, and brain damage in preterm newborns

Keywords: BPD, bronchopulmonary dysplasia; CAM, chorioamnionitis; CI, confidence interval; CLD, chronic lung disease; CP, cerebral palsy; cPVL, cystic periventricular leukomalacia; DD, developmental delay; NRG, Neuregulin; OR, odds ratio; PTL, preterm labor; PVE, p

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه