Keywords: اشتباهات درونی; fetal DNA; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene;
مقالات ISI اشتباهات درونی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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.
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: اشتباهات درونی; ASD; Asparagine Synthetase Deficiency; ASNase; Asparaginase; ASNS; asparagine synthetase; CARE; C/EBP-ATF response element; CSF; cerebral spinal fluid; EEG; electroencephalogram; GAPDH; glyceraldehyde-3-phosphate dehydrogenase; PDB; protein data base; SD;
Keywords: اشتباهات درونی; Inborn errors; Neurocognitive; Clinical outcome assessment; Natural history studies; Rare diseases; Drug development;
Keywords: اشتباهات درونی; Child; Cystinuria; Kidney stone; Proteomics; Renal aminoacidurias; Inborn errors;
Keywords: اشتباهات درونی; fetal DNA; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene
Keywords: اشتباهات درونی; Consanguinity; Inborn errors; Neurometabolic; Maple syrup; Tay–Sachs disease
Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophyâ¬â¬â¬â¬â¬â¬â¬â¬
Keywords: اشتباهات درونی; Hypertrophic cardiomyopathy; Lysosomal storage disease; Pathology; Inborn errors;
Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function
Keywords: اشتباهات درونی; Urea cycle diseases; CPS1 deficiency; Hyperammonemia; Inborn errors; CPS 1 structure; Site-directed mutagenesis;
Prenatal diagnosis of single gene disorders
Keywords: اشتباهات درونی; fetal DNA; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency
Keywords: اشتباهات درونی; Adenylosuccinate lyase deficiency; Chinese hamster ovary cells; Inborn errors; Cell culture models
Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B12 metabolism
Keywords: اشتباهات درونی; MMACHC; MMADHC; Vitamin B12; Cyanocobalamin; Hydroxycobalamin; Methylcobalamin; Deoxyadenosylcobalamin; Dynamic light scattering; Fluorescence spectroscopy; Phage display; Surface plasmon resonance; Bacterial two-hybrid system; Inborn errors; cblC; cblD
Prenatal diagnosis of single gene disorders
Keywords: اشتباهات درونی; foetal DNA; hydrops; inborn errors; MLPA; molecular; non-invasive; prenatal diagnosis; sequencing; single gene
Lipolysis and the integrated physiology of lipid energy metabolism
Keywords: اشتباهات درونی; Lipolysis; Adipocyte; Obesity; Energy metabolism; Lipid metabolism; Metabolism; Inborn errors
Cystinuria
Keywords: اشتباهات درونی; Renal aminoaciduria; cystinuria; D-penicillamine; renal tubular transport; inborn errors; tiopronin; urolithiasis
Hereditary and acquired diseases of acyl-coenzyme A metabolism
Keywords: اشتباهات درونی; Coenzyme A; Organic acids; Amino acid metabolism; Fatty acid metabolism; Inborn errors; Pathophysiology; Expanded newborn screening
Diagnosing AICA-ribosiduria by capillary electrophoresis
Keywords: اشتباهات درونی; Inborn errors; Purines; Metabolism; Screening;
Defects of cholesterol biosynthesis
Keywords: اشتباهات درونی; Inborn errors; Isoprenoid; Cholesterol; Embryogenesis; Development
A medical bioinformatics approach for metabolic disorders: Biomedical data prediction, modeling, and systematic analysis
Keywords: اشتباهات درونی; Metabolic disorders; Medical bioinformatics; Systems biology; Integrative bioinformatics; Urea cycle disorders; Inborn errors; PathAligner
From idiopathic infectious diseases to novel primary immunodeficiencies
Keywords: اشتباهات درونی; Primary immunodeficiency; infectious diseases; idiopathic infections; inborn errors; Mendelian disorders; predisposition to infection;
Simultaneous determination of urinary creatinine and UV-absorbing amino acids using a novel low-capacity cation-exchange chromatography for the screening of inborn errors of metabolism
Keywords: اشتباهات درونی; Creatinine; Amino acids; Inborn errors;