Keywords: بیماری ژنتیکی; Connexin; Mutation; Genetic disease; Hemichannel; Gap junction;
مقالات ISI بیماری ژنتیکی (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: بیماری ژنتیکی; Pre-conception; genetic disease; maternal; paternal; ARR; adjusted risk ratio; ART; assisted reproduction technology; PGD; pre-implantation genetic diagnosis; RPL; recurrent pregnancy loss;
Keywords: بیماری ژنتیکی; Rare disease; Transitional care; Care delivery; Genetic disease;
Keywords: بیماری ژنتیکی; Dose-response; Risk assessment; Mutagen; Carcinogen; Genetic disease;
Keywords: بیماری ژنتیکی; fetal anomalies; genetic disease; noninvasive prenatal testing; predictive genetic testing; prenatal diagnosis; prenatal genetic counseling;
Keywords: بیماری ژنتیکی; Genetic counseling; Challenges; Genetic disease; Saudi; Preventative reproductive options; Carrier testing
Keywords: بیماری ژنتیکی; Genetic disease; Ring chromosome 18; Kabuki syndrome; 19p13.3 deletion; Hypogammaglobulinaemia; Humoral deficiency; Immune deficiency; Chromosome aberration
Keywords: بیماری ژنتیکی; angiokeratoma; stroke; heart disease; genetic disease; sphingolipids; X-linked;
Keywords: بیماری ژنتیکی; Carrier status; Parent; Psychological impact; Genetic disease; Non-invasive; testing;
Keywords: بیماری ژنتیکی; Genetic disease; Sickle cell disease; Thalassemias; Public health; Newborn screening; Malaria selection; Consanguinity; Human migrations;
Keywords: بیماری ژنتیکی; Connexin; Epidermis; Mutation; Genetic disease; Hemichannel; Gap junction;
Keywords: بیماری ژنتیکی; Consensus string; Inversion; Genetic disease; Allelic heterogeneity; Iterative algorithm; Matrix;
Keywords: بیماری ژنتیکی; Skin; Connexin; Genetic disease; Inhibitor; Gap junctions; KID syndrome; Inflammation;
Keywords: بیماری ژنتیکی; MALDI; Histology; Imaging mass spectrometry; Ectopic calcification; Genetic disease; Connective tissue;
Keywords: بیماری ژنتیکی; Allele-specific hybridization; Cancer; Deoxyribonucleic acid; Detection mechanism; Diagnostics; Genetic disease; Genotyping; Molecular beacon; Sequencing; Single-nucleotide polymorphism
Keywords: بیماری ژنتیکی; Biodefense; Chemiluminescence; Colorimetry; Electrochemistry; Fluorescence; Fluorometry; Genetic disease; Hybridization chain reaction; Mutation detection; Nucleic acid
Keywords: بیماری ژنتیکی; Human population genetics; Genetic disease; Public health; Radiation risk; Race science;
Keywords: بیماری ژنتیکی; Cardiolipin; Heart failure; Thyroid hormone; Barth Syndrome; Metabolism; Diabetes; Lipid; Phospholipid; Mitochondria; Genetic disease
Keywords: بیماری ژنتیکی; Consanguinity; genetic disease; linkage analysis; gene discovery; identical by descent (IBD); homozygosity mapping; kidney research; pediatrics; population differences; Saudi Arabia;
Keywords: بیماری ژنتیکی; von Hippel Lindau disease; Birt-Hogg-Dube disease; Kidney cancer; Genetic susceptibility; Genetic disease;
Keywords: بیماری ژنتیکی; Genetic disease; Nonsense-mediated decay; Nonsense suppression; Read-through
Keywords: بیماری ژنتیکی; Stigma; Discrimination; Genetics; Genetic disease; Inheritance; Familial amyloid polyneuropathy; Predictive testing; Portugal;
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome
Keywords: بیماری ژنتیکی; Connexin; Mutation; Genetic disease; Channel; Epidermis;
Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation
Keywords: بیماری ژنتیکی; Case report; fibroblast growth factor 23 (FGF-23); FGF23 mutation; hemodialysis; hyperphosphatemia; genetic disease; metabolic disorder; mutation; tumoral calcinosis; extra-osseous calcifications;
Deciphering defective amelogenesis using in vitro culture systems
Keywords: بیماری ژنتیکی; Amelogenesis imperfecta; Cell-cell interaction; Cell-matrix interaction; Dental epithelial cell; Genetic disease; In vitro amelogenesis imperfecta model; Phenotypic screening; Sp6;
Residues important for Ca2+ ion transport in the neuronal K+-dependent Na+-Ca2+ exchanger (NCKX2)
Keywords: بیماری ژنتیکی; NCKX; K+- dependent Na+- Ca2+ exchangers; NCX; Na+- Ca2+ exchangers; CaCA; Ca2+/ cation antiporter gene family; SLC24; solute carrier 24 gene family; FCCP; carbonyl cyanide-p-trifluoromethoxyphenylhydrazone; EDTA; ethylenediamine triacetic acid; HEDTA; hy
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases
Keywords: بیماری ژنتیکی; ATP; Adenosine triphosphate; ABC; ATP-binding cassette; ICP; Intrahepatic cholestasis of pregnancy; LPAC; Low phospholipid-associated cholelithiasis; NBD; Nucleotide-binding domain; PFIC3; Progressive familial intrahepatic cholestasis type 3; Cholestasis;
Encéphalopathie mitochondriale neuro-gastro-intestinale (MNGIE) : quand et comment l'évoquer devant une anorexie mentale atypique ?
Keywords: بیماری ژنتیکی; MNGIE; Anorexie; Diagnostic différentiel; Maladie génétique; Maladie orpheline; MNGIE; Anorexia; Differential diagnosis; Genetic disease; Orphan disease;
Maladie de Huntington : données actuelles sur la prise en charge thérapeutique des troubles psychiatriques
Keywords: بیماری ژنتیکی; Cas clinique; Chorée de Huntington; Dégénérescence; Maladie neurologique; Maladie génétique; Pathologie psychiatrique; Prise en charge; Care management; Clinical case; Degeneration; Genetic disease; Huntington's disease; Neurological disease; Psychi
Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1
Keywords: بیماری ژنتیکی; Myocardial infarction; Atherosclerosis; Functional genomics; Genetic polymorphism; Genomics; Low-density lipoprotein (LDL); Genetic disease; PHACTR1; Expression quantitative trait locus (eQTL); Oxidized low density lipoprotein (oxLDL); CAD; coronary arter
Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism
Keywords: بیماری ژنتیکی; Calcium; Phosphate; PTH; PTHrP; PTH/PTHrP receptor; Pseudohypoparathyroidism type Ia and Ib; Pseudopseudohypoparathyroidism; GNAS; Stimulatory G protein (Gsα); Imprinting; Syntaxin 16 (STX16); Parent-specific DNA methylation; Genetic disease; cAMP signal
mRNA metabolism and neuronal disease
Keywords: بیماری ژنتیکی; mRNA; Genetic disease; Splicing; Post-transcriptional regulation of gene expression; mRNA turnover;
Mendelian disorders of PI metabolizing enzymes
Keywords: بیماری ژنتیکی; Genetic disease; Phosphoinositide; PI kinase; PI phosphatase; OCRL; Lowe syndrome;
Close encounters for the first time: Helicase interactions with DNA damage
Keywords: بیماری ژنتیکی; Helicase; DNA damage; Genomic instability; DNA repair; Genetic disease
Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays
Keywords: بیماری ژنتیکی; Germ cell mutation; Genetic disease; Reproductive health; Copy number variants; Gene; mutation; Chromosome aberrations;
Genetic disorders coupled to ROS deficiency
Keywords: بیماری ژنتیکی; NADPH oxidase; Chronic granulomatous disease; Inflammatory bowel disease; Hypothyroidism; NOX; DUOX; Genetic disease; Reactive oxygen species (ROS);
Mammalian Fe-S cluster biogenesis and its implication in disease
Keywords: بیماری ژنتیکی; Mitochondria; Iron-sulfur cluster; Genetic disease; Mutation;
Les multiples douleurs du syndrome d'Ehlers-Danlos. Description et proposition d'un protocole thérapeutique
Keywords: بیماری ژنتیکی; Syndrome d'Ehlers-Danlos; Douleurs; Maladie génétique; Maladie du collagène; Orthèses; Médecine physique; Réadaptation; Oxygénothérapie; Ehlers-Danlos Syndrome; Pains; Genetic disease; Collagen disease; Orthesis; Physical medicine; Rehabilitatio
Hereditary premature closure of a coronal suture in the Abraham Lincoln family
Keywords: بیماری ژنتیکی; DNA, deoxyribonucleic acidHistory of medicine; Abraham Lincoln; Craniosynostosis; Genetic disease; Congenital anomalies; Plagiocephaly
The search for genetic mouse models of prodromal Parkinson's disease
Keywords: بیماری ژنتیکی; Parkinson's; PINK1; Genetic disease; Cognition; Gait; Olfaction; Mitochondria; 5-HT;
Mutations in inhibin and activin genes associated with human disease
Keywords: بیماری ژنتیکی; Inhibin; Activin; Premature ovarian failure; Ovarian cancer; Genetic disease
Hedgehog trafficking, cilia and brain functions
Keywords: بیماری ژنتیکی; Neural stem cell; Genetic disease; Cancer; Pharmacology; Astrocyte
Population-ethnic group specific genome variation allele frequency data: A querying and visualization journey
Keywords: بیماری ژنتیکی; National/ethnic mutation databases (NEMDBs); Genetic variation; Genetic disease; Querying tools; Visualization tools; Data mining
Diagnostyka preimplantacyjna w kierunku niedosÅuchu wrodzonego z mutacjÄ
35delG w genie GJB2 - doniesienie wstÄpne
Keywords: بیماری ژنتیکی; diagnostyka preimplantacyjna; choroby genetyczne; gÅuchota; gen GJB2; choroby autosomalne recesywne; preimplantation genetic diagnosis; genetic disease; deafness; GJB2 gene; recessive autosomal disorders;
Changes in bone structure of Corriedale sheep with inherited rickets: A peripheral quantitative computed tomography assessment
Keywords: بیماری ژنتیکی; pQCT; Rickets; Sheep; Genetic disease; Bone
Preimplantation genetic diagnosis: twenty years of practice
Keywords: بیماری ژنتیکی; Biopsy; Chromosome aberration; Genetic disease; In-vitro fertilisation; Preimplantation genetic diagnosis; Preimplantation genetic screening;
Genetic Considerations for a Woman's Pre-conception Evaluation
Keywords: بیماری ژنتیکی; Pre-conception; genetic disease; maternal; family history; genetic health risk; genetic health surveillance; prenatal screening; prenatal diagnosis; birth defects; teratogen;
Normal vitamin D receptor function with increased expression of 25-hydroxyvitamin D3-24-hydroxylase in Corriedale sheep with inherited rickets
Keywords: بیماری ژنتیکی; Vitamin D; Rickets; Sheep; CYP24; Genetic disease
Considérations génétiques pour ce qui est de l'évaluation préconceptionnelle chez la femme
Keywords: بیماری ژنتیکی; Pre-conception; genetic disease; maternal; family history; genetic health risk; genetic health surveillance; prenatal screening; prenatal diagnosis; birth defects; teratogen;
Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease
Keywords: بیماری ژنتیکی; Hemochromatosis; Iron Overload; Genetic Disease; Family Study; BMI; body mass index; FPN; ferroportin; HIC; hepatic iron concentration; HJV; hemojuvelin; N; normal; TFR2; transferrin receptor 2; WT; wild type;