Keywords: ناهنجاری ژنتیکی; Apert syndrome; Genetic disorder; Craniosynostosis; FGFR2;
مقالات ISI ناهنجاری ژنتیکی (ترجمه نشده)
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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: ناهنجاری ژنتیکی; Dried blood spot; Genetic disorder; Inborn errors of metabolism; Inherited disease; Mass spectrometry; Metabolomics; Targeted metabolomics;
Keywords: ناهنجاری ژنتیکی; genetic disorder; cardiopulmonary bypass; cognition; motor performance; CHD; Congenital heart disease; CPB; Cardiopulmonary bypass; ICU; Intensive care unit; K-ABC; Kaufman Assessment Battery for Children; NSS; Neurologic Severity Score; SES; Socioeconomi
Keywords: ناهنجاری ژنتیکی; Congenital heart disease; Development; Impairment; Outcome; School-age; Genetic disorder; Examination;
Keywords: ناهنجاری ژنتیکی; Genetic disorder; Mendelian; Chromosomal; Chorionic villus sampling; Multiple pregnancies; Fetal reduction; Pre-implantation diagnosis; Amniocentesis;
Keywords: ناهنجاری ژنتیکی; Chromosomes; Centromere; Karyotyping; Homologue chromosome; Genetic disorder;
Non-viral delivery systems for CRISPR/Cas9-based genome editing: Challenges and opportunities
Keywords: ناهنجاری ژنتیکی; CRISPR/Cas9; Non-viral delivery; Genetic disorder; Cancer; Nanomedicine; Clinical translation;
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU)
Keywords: ناهنجاری ژنتیکی; Aptamer; Genetic disorder; Biomarker; Phenylketonuria; Gold nanostructure;
Rescuing the CFTR protein function: Introducing 1,3,4-oxadiazoles as translational readthrough inducing drugs
Keywords: ناهنجاری ژنتیکی; Cystic fibrosis; Premature termination codon; Nonsense mutation; Genetic disorder; Oxadiazole; CCR2; CC chemokine receptor 2; CCL2; CC chemokine ligand 2; CCR5; CC chemokine receptor 5; TLC; thin layer chromatography;
MinireviewCystathionine β-synthase deficiency: Of mice and men
Keywords: ناهنجاری ژنتیکی; Homocystinuria; Aminoaciduria; Mouse model; Methionine; Recessive; Genetic disorder;
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia
Keywords: ناهنجاری ژنتیکی; Bile acid metabolism; Cholestatic liver diseases; Drug-induced hepatotoxicity; Genetic disorder;
ReviewCatabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes
Keywords: ناهنجاری ژنتیکی; N-glycan; catabolism; lysosomes; cytosol; genetic disorder; lysosomal storage disease; NGLY1-deficiency; AGA; aspartylglucosaminidase; AGU; aspartylglucosaminuria; EBP; elastin-binding protein; ENGase; endo-β-N-acetylglucosaminidase; ER; endoplasmic reti
Bardet-Biedl syndrome: A model for translational research in rare diseases
Keywords: ناهنجاری ژنتیکی; AAV; adeno-associated vector; ADPKD; autosomal dominant polycystic kidney disease; BBS; Bardet-Biedl Syndrome; CDE; common data element; CRIBBS; Clinical Registry Investigating Bardet-Biedl Syndrome; DDAVP; desmopressin acetate; GRDR®; Global Rare Di
How genetic errors in GPCRs affect their function: Possible therapeutic strategies
Keywords: ناهنجاری ژنتیکی; Activation; Agonist; Mutation; Gene therapy; Genetic disorder; GPCR
Analysis of human chromosome classification using centromere position
Keywords: ناهنجاری ژنتیکی; Chromosome classification; Centromere; Karyotype; Genetic disorder;
α-Lipoic acid supplementation up-regulates antioxidant capacity in adults with G6PD deficiency
Keywords: ناهنجاری ژنتیکی; Oxidative stress; Redox status; Glutathione; Genetic disorder; Erythrocytes; Free radicals
Smelling the roses and seeing the light: gene therapy for ciliopathies
Keywords: ناهنجاری ژنتیکی; cilia; viral vectors; genetic disorder; gene therapy; ciliopathies; treatment
Renal tumors with clear cells. A review
Keywords: ناهنجاری ژنتیکی; Renal cancer; Clear cell; Genetic disorder; Diagnosis; Differential diagnosis
Detection of a novel splicing mutation causing analbuminemia in a Libyan family
Keywords: ناهنجاری ژنتیکی; Analbuminemia; Genetic disorder; Splicing mutation; DHPLC; DNA sequencing
Syndrome branchio-oculo-facial
Keywords: ناهنجاری ژنتیکی; Syndrome branchio-oculo-facial; Thymus; Affection génétique; Gène TFAP2A; Corrélation génotype-phénotype; Branchio-oculo-facial; Thymus; Genetic disorder; TFAP2A gene; Genotype-phenotype correlation;
Recent topics in fibrodysplasia ossificans progressiva
Keywords: ناهنجاری ژنتیکی; Bone morphogenetic protein; Receptor; Genetic disorder; Treatment;
Joubert Syndrome and Related Disorders: Implications for Nurse Practitioners
Keywords: ناهنجاری ژنتیکی; developmental delay; genetic disorder; Joubert syndrome; Joubert syndrome related disorders; molar tooth sign;
Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers
Keywords: ناهنجاری ژنتیکی; Genetic disorder; genetic carrier screening; reproductive medicine; attitudes; knowledge
Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams-Beuren syndrome patients
Keywords: ناهنجاری ژنتیکی; Genetic disorder; Microdeletion; Genome instability; Lymphocytes; Comet assay;
Patterns and trajectories in Williams Syndrome: The case of visual orientation discrimination
Keywords: ناهنجاری ژنتیکی; Williams Syndrome; Genetic disorder; Development; Visual orientation perception
Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis
Keywords: ناهنجاری ژنتیکی; epidermis; genetic disorder; pathologyDSAP, disseminated superficial actinic porokeratosis; DSP, disseminated superficial porokeratosis; LP, linear porokeratosis; PM, porokeratosis of Mibelli; PP, punctate porokeratosis; PPPD, porokeratosis palmaris et pl
Congenital Adrenal Hyperplasia: An Endocrine Disorder with Neonatal Onset
Keywords: ناهنجاری ژنتیکی; Neonatal; Endocrine; Adrenal; Ambiguous genitalia; Metabolic disorder; Salt-loss; Newborn; Genetic disorder
Complete Androgen Insensitivity Syndrome—A Review
Keywords: ناهنجاری ژنتیکی; Vaginal agenesis; Testicular feminization; Hormone therapy; Genetic disorder; Vaginal dilatation
Newborn Screening
Keywords: ناهنجاری ژنتیکی; Newborn screening; Genetic disorder; Congenital disorder
Identification of mitochondrial disease genes through integrative analysis of multiple datasets
Keywords: ناهنجاری ژنتیکی; Functional genomics; Mitochondria; Genetic disorder; Genome-wide dataset; Discrimination analysis; Positional cloning; Functional gene network; Machine learning; Bayesian data integration; Support vector machine
Unexpected off-targeting effects of anti-huntingtin ribozymes and siRNA in vivo
Keywords: ناهنجاری ژنتیکی; rAAV; Striatum; Huntington's disease; Mouse; Gene transfer; Neurological disorder; Genetic disorder;
Carcinomas renales con células claras
Keywords: ناهنجاری ژنتیکی; Carcinoma renal; células claras; alteración genética; diagnóstico; diagnóstico diferencial; Renal cancer; clear cell; genetic disorder; diagnosis; differential diagnosis;