Keywords: شماره های نسخه کپی کنید; fetal alcohol spectrum disorder; chromosomal microarray analysis; copy number variants; developmental delay; ARBD; Alcohol-related birth defect; ARND; Alcohol-related neurodevelopmental disorder; CMA; Chromosomal microarray analysis; CNV; Copy number vari
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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: شماره های نسخه کپی کنید; ASD; Autism Spectrum Disorders; ASQ; the Autism Screening Questionnaire; AOS; Adult onset schizophrenia; ADHD; Attention Deficit Hyperactivity Disorder; BPRS; Brief Psychiatric Rating Scale; COS; Childhood onset schizophrenia; CGAS; Children's Global Asse
Keywords: شماره های نسخه کپی کنید; Autism; Psychosis; Co-morbidity; Copy number variants;
Keywords: شماره های نسخه کپی کنید; Alcoholism; Copy number variants; Deletions; Genome; pLI; Substance use disorder;
Keywords: شماره های نسخه کپی کنید; uPA; urokinase plasminogen activator; PAI-1; plasminogen activator inhibitor 1; ctDNA; circulating tumor DNA; CTC; circulating tumor cells; PFS; progression-free survival; pCR; pathological complete response; SNVs; single nucleotide variants; CNVs; copy n
Keywords: شماره های نسخه کپی کنید; SCZ; Schizophrenia; GWAS; Genome-wide association studies; CNVs; Copy number variants; Psychosis; Schizophrenia; Antipsychotics; Glutamate; Dopamine; Clinical trials; Efficacy; Drug development; Pharmacology;
Keywords: شماره های نسخه کپی کنید; copy number variants; next-generation sequencing; array CGH analysis; variable expression; variable penetrance;
Keywords: شماره های نسخه کپی کنید; Primary immunodeficiency disease; whole-exome sequencing; copy number variants; AD; Autosomal dominant; ALPS; Autoimmune lymphoproliferative syndrome; AR; Autosomal recessive; BCM; Baylor College of Medicine; BHCMG; Baylor-Hopkins Center for Mendelian Gen
Keywords: شماره های نسخه کپی کنید; congenital heart disease; complex inheritance; murine genetics; BAV; Bicuspid aortic valve; CHD; Congenital heart defect; CNV; Copy number variants; HLHS; Hypoplastic left heart syndrome; LV; Left ventricle;
Keywords: شماره های نسخه کپی کنید; copy number variants; dairy cattle; whole-genome sequencing; Bovine SNP50 BeadChip;
Keywords: شماره های نسخه کپی کنید; Microarrays; Congenital anomalies; Developmental disabilities; Copy number variants; DiagnosisMicroarrays; Anomalias congênitas; Atraso de desenvolvimento; Variante do número de cópia; Diagnóstico
Keywords: شماره های نسخه کپی کنید; Copy number variants; Quantitative interspecies competitive PCR; Psychiatric genetics; Schizophrenia; Autism;
Keywords: شماره های نسخه کپی کنید; Microarrays; Congenital anomalies; Developmental disabilities; Copy number variants; DiagnosisMicroarrays; Anomalias congênitas; Atraso de desenvolvimento; Variante do número de cópia; Diagnóstico
Keywords: شماره های نسخه کپی کنید; Neurodevelopmental disorders; Autism spectrum disorders; Genetics; Copy number variants; Chromosomal microarray; Whole-exome sequencing;
Keywords: شماره های نسخه کپی کنید; Schizophrenia; Copy number variants; Genetics; Cannabis; Substance abuse; Age at onset;
Keywords: شماره های نسخه کپی کنید; De novo mutations; Copy number variants; Genetic risk; Familial schizophrenia; Sporadic schizophrenia
Keywords: شماره های نسخه کپی کنید; Congenital diaphragmatic hernia; Copy number variants; Gene; Genomics; Syndromes
Keywords: شماره های نسخه کپی کنید; Schizophrenia; Cognition; Deletions; Copy number variants; VBM; DTI
Keywords: شماره های نسخه کپی کنید; CNV; Copy number variants; Fibromyalgia; Genome-wide association scan; GWAS; Single nucleotide polymorphism;
Two cases of complex balanced autosomal translocations associated with severe oligozoospermia
Keywords: شماره های نسخه کپی کنید; CCR; complex chromosomal rearrangements; CNV; copy number variation; FISH; fluorescent in situ hybridization; Balanced translocation; Fluorescence in situ hybridization; Copy number variants; Oligozoospermia;
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B
Keywords: شماره های نسخه کپی کنید; KTM2B; Dystonia; Microdeletions; Genetic and inherited disorders; CNV; Copy number variants; GPI-DBS; Globus pallidus interna-deep brain stimulation; ID; Intellectual disability; MLPA; Multiplex ligation-dependent probe amplification; MRI; Magnetic resona
Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases
Keywords: شماره های نسخه کپی کنید; ADHD; Attention-Deficit/Hyperactivity Disorder; CNS; central nervous system; CNVs; copy number variants; GABA; gamma-aminobutyric acid; GO; Gene Ontology; HLA; human leukocyte antigen; IL; interleukin; KEGG; Kyoto Encyclopedia of Genes and Genomes; NMDA;
Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication
Keywords: شماره های نسخه کپی کنید; Genetic generalized epilepsy; 8q21; Early onset absence seizures; Copy number variants; Association studies in Genetics; Absence seizures; idiopathic generalized epilepsy;
Exome array analysis suggests an increased variant burden in families with schizophrenia
Keywords: شماره های نسخه کپی کنید; SNP; single nucleotide polymorphism; WAFSS; Western Australian Family Study of Schizophrenia FDR false discovery rate; ECM; extracellular matrix; CNV; copy number variants; GWAS; genome wide association study; MAF; minor allele frequency; PCA; principal c
Research ArticleCopy number variants calling for single cell sequencing data by multi-constrained optimization
Keywords: شماره های نسخه کپی کنید; Copy number variants; Read depth; Sparsity; Poisson distribution; Total variation;
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families
Keywords: شماره های نسخه کپی کنید; ACRD; autism chromosome rearrangement database; AutDB; autism database; CNVs; copy number variants; DGVs; database of genomic variants; GABA; gamma-aminobutyric acid; qPCR; quantitative real-time PCR; SNPs; single nucleotide polymorphisms; autism; copy nu
Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy
Keywords: شماره های نسخه کپی کنید; Copy number variants; Hypertrophic cardiomyopathy; High-throughput sequencing
Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays
Keywords: شماره های نسخه کپی کنید; Germ cell mutation; Genetic disease; Reproductive health; Copy number variants; Gene; mutation; Chromosome aberrations;
Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease
Keywords: شماره های نسخه کپی کنید; a-CGH; array-comparative genomic hybridization; CNVs; copy number variants; NDUFS4; NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18Â kDa (NADH-coenzyme Q reductase); PCR; polymerase chain reaction; ATPase6; ATP Synthase 6; SURF1; surfeit 1; Leigh syn
Array report19q13.32 microdeletion syndrome: Three new cases
Keywords: شماره های نسخه کپی کنید; Copy number variants; 19q13.32 microdeletion; ARHGAP35; NPAS1; SLC8A2; NAPA; Intellectual disability; Dysmorphic features; Hypoplastic corpus callosum; SNP chromosomal microarray;
A competitive PCR assay confirms the association of a copy number variation in the VIPR2 gene with schizophrenia in Han Chinese
Keywords: شماره های نسخه کپی کنید; Schizophrenia; Copy number variants; VIPR2; Han Chinese;
SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: Evidence from a meta-analysis
Keywords: شماره های نسخه کپی کنید; SMN1 deletions; SMN1 duplications; SMN2 homozygous deletions; Copy number variants; SALS; Meta-analysis; Susceptibility;
Short CommunicationInv21p12q22del21q22 and intellectual disability
Keywords: شماره های نسخه کپی کنید; Array CGH; array comparative genomic hybridization; CNVs; copy number variants; DS; Down syndrome; FISH; fluorescence in situ hybridization; ID; intellectual disability; MLPA; multiplex-ligation probe amplification; OMIM; Online Mendelian Inheritance in M
Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems
Keywords: شماره های نسخه کپی کنید; GSTs; Glutathione S-Transferases; LoF; Loss-of-Function; MAPEG; Membrane-Associated Proteins involved in Eicosanoid and Glutathione metabolism; GSTA; GST alpha class; GSTM; GST mu class; GSTP; GST pi class; GSTT; GST theta class; GSTK; GST kappa class; GS
Harnessing genomics to identify environmental determinants of heritable disease
Keywords: شماره های نسخه کپی کنید; Germ cell; Heritable mutation; Next generation sequencing; Copy number variants
Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation
Keywords: شماره های نسخه کپی کنید; aneuploidy; interactome; gene expression; whole genome duplication; copy number variants; dosage compensation
Genetics of Childhood-onset Schizophrenia
Keywords: شماره های نسخه کپی کنید; Childhood-onset schizophrenia; Genetics; Common alleles; GWAS; Copy number variants; Rare alleles; Autism;
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Keywords: شماره های نسخه کپی کنید; ID; intellectual delay; PWS; Prader-Willi syndrome; AS; Angelman syndrome; ADHD; attention deficit hyperactivity disorder; ASD; autistic spectrum disorder; array CGH; array-based comparative genomic hybridisation; CNV; copy number variants; 15q11.2 dele
The future of fMRI and genetics research
Keywords: شماره های نسخه کپی کنید; Imaging genetics; Psychiatric disorders; Polymorphisms; Copy number variants; Gene-environment-interactions;
Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada
Keywords: شماره های نسخه کپی کنید; Array genomic hybridization; fetal structural anomalies; copy number variants;
Copy number alterations at polymorphic loci may be acquired somatically in patients with myelodysplastic syndromes
Keywords: شماره های نسخه کپی کنید; Myelodysplastic; Copy number variants; CGH; Somatic alterations
Is schizophrenia on the autism spectrum?
Keywords: شماره های نسخه کپی کنید; ToM, theory of mind; MNS, mirror neuron system; DSM, Diagnostic and Statistical Manual of Mental Disorders; TMS, transcranial magnetic stimulationTheory of mind; Connectivity; Mirror neuron; Copy number variants; Pervasive developmental disorder; Schizoty
Genetics and epigenetics of obesity
Keywords: شماره های نسخه کپی کنید; BMI; body mass index; WC; waist circumference; WHR; waist:hip ratio; T2D; type-2-diabetes; LD; linkage disequilibrium; CNV; copy number variants; PWS; Prader-Willi syndrome; QTL; quantitative trait loci; SNP; single nucleotide polymorphism; Genetic; Epi
Evolutionary biology looks at behavior genetics
Keywords: شماره های نسخه کپی کنید; Evolutionary psychology; Genetic variation; Personality; Mutations; Copy number variants
Phenotypic and genomic analysis of an exceptional case of enteropathy associated T-cell lymphoma
Keywords: شماره های نسخه کپی کنید; CD; coeliac disease; CGH; comparative genomic hybridisation; CNV; copy number variants; EATL; enteropathy associated T-cell lymphoma; EMA; endomysial antibodies; FACS; flowcytometry; GFD; gluten free diet; IEL; intraepithelial lymphocytes; LPL; lamina pro
Copy Number Variants of GSTM1 and GSTT1 in Relation to Lung Cancer Risk in a Prospective Cohort Study
Keywords: شماره های نسخه کپی کنید; Glutathione S-Transferase; GSTM1; GSTT1; Lung Carcinoma; Hemizygous Deletion; Homozygous Deletion; Copy Number Variants; Metabolic GenesGST, glutathione S-transferases; GSTM1, GST Mu-1; GSTT1, GST Theta-1; PCR, polymerase chain reaction; PAH, polycyclic a
Genetic variation in human disease and a new role for copy number variants
Keywords: شماره های نسخه کپی کنید; Single nucleotide polymorphism; Mutation; Complex genetic disease; Copy number variants
Genes, diet and inflammatory bowel disease
Keywords: شماره های نسخه کپی کنید; Single nucleotide polymorphism; Inflammatory bowel disease; Gene; Copy number variants; Elemental diet; Microbial flora;