Keywords: تشخیص ژنتیکی; Rare disease; Cohen syndrome; Genetic diagnosis; Rehabilitation therapy;
مقالات ISI تشخیص 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: تشخیص ژنتیکی; Hypertrophic cardiomyopathy; Genetic diagnosis; Sarcomeric mutations; Therapy; Sudden cardiac death; MiocardiopatÃa hipertrófica; Diagnóstico genético; Mutaciones sarcoméricas; Tratamiento; Muerte súbita cardiaca;
Keywords: تشخیص ژنتیکی; ADNmt; chaîne des OXPHOS; diagnostic moléculaire; maladies héréditaires du métabolisme; maladies mitochondriales; genetic diagnosis; metabolism inherited diseases; mitochondrial disorders; mtDNA; OXPHOS;
Keywords: تشخیص ژنتیکی; Genodermatosis; Epidermolysis bullosa; Epidermolysis bullosa simplex; Epidermolysis bullosa junctional; Epidermolysis bullosa dystrophic; Kindler syndrome; Genetic diagnosis; Antigen mapping; Prenatal diagnosis; Preimplantation diagnosis; Genodermatosis;
Keywords: تشخیص ژنتیکی; Genetic diagnosis; Liddle's syndrome; precision medical;
Keywords: تشخیص ژنتیکی; complex disease; genetic diagnosis; phenotypic characterization; ACY1; Aminoacylase 1; JHF; Juvenile hyaline fibromatosis; PROVEAN; Protein Variation Effect Analyzer; SMALED2; Spinal muscular atrophy, lower extremity-predominant type 2; SNP; Single-nucleo
Keywords: تشخیص ژنتیکی; Sudden unexplained death; Cardio-cerebral channelopathies; Rare mutation; Polymorphism; Genetic diagnosis;
Keywords: تشخیص ژنتیکی; Genetic diagnosis; Maturity-onset diabetes of the young; Monogenic diabetes; Type 2 diabetes; Whole exome sequencing;
Keywords: تشخیص ژنتیکی; ALT; alanine transaminase; AST; aspartate transaminase; CDG; congenital disorder of glycosylation; GSD; glycogen storage disease; IEF; isoelectric focusing; LFT; liver function tests; MS; mass spectrometry; NGS; next generation sequencing; PAS; Periodic a
Keywords: تشخیص ژنتیکی; Targeted sequencing; Non-syndromic intellectual disability; Genetic diagnosis
Keywords: تشخیص ژنتیکی; Targeted exome; Gene panel; Whole exome; Massively parallel sequencing; Genetic diagnosis; Neuromuscular disorders
Keywords: تشخیص ژنتیکی; Enfermedades raras; drogas huérfanas; diagnóstico genético; redes de grupos de trabajo; asesoramiento genético; agrupaciones de padres.Rare diseases; orphan drugs; genetic diagnosis; network working group; genetic counseling; parents associations.
Keywords: تشخیص ژنتیکی; Genomics; Neonatology; Genetic testing; Precision Medicine; Genetic diagnosis
Keywords: تشخیص ژنتیکی; adrenal hyperplasia; brain; CAH; dexamethasone; genetic diagnosis; prenatal treatment3βHSD2, 3β-hydroxysteroid dehydrogenase, type 2; 3αHSD, one of several 3α-hydroxysteroid dehydrogenases; 17βHSD, one of several 17β-hydroxysteroid dehydrogenases; 17OHP,
Keywords: تشخیص ژنتیکی; Embryo biopsy; genetic diagnosis; intrauterine growth restriction; neonatal outcome; preimplantation; prematurity;
Keywords: تشخیص ژنتیکی; Duchenne/Becker muscular dystrophy; Dystrophin gene; Genetic diagnosis; Genotypephenotype; Multiplex ligation-dependent probe amplification; Sanger sequence;
Keywords: تشخیص ژنتیکی; Familial hypercholesterolaemia; Low-density lipoprotein cholesterol (LDL-cholesterol); Cascade screening; Genetic diagnosis; DNA testing; Policy;
Exome and genome sequencing in reproductive medicine
Keywords: تشخیص ژنتیکی; Exome sequencing; genetic counseling; genetic diagnosis; preconception; prenatal;
MiocardiopatÃa hipertrófica
Keywords: تشخیص ژنتیکی; MiocardiopatÃa hipertrófica; Diagnóstico genético; Mutaciones sarcoméricas; Tratamiento; Muerte súbita cardiaca; Hypertrophic cardiomyopathy; Genetic diagnosis; Sarcomeric mutations; Therapy; Sudden cardiac death;
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings
Keywords: تشخیص ژنتیکی; CDGP; constitutional delay of growth and puberty; CHO; Chinese hamster ovary; E2; estradiol; ER; endoplasmic reticulum; FSH; follicle-stimulating hormone; GnRH; gonadotropin-releasing hormone; HEK; human embryonic kidney; H-P-G axis; hypothalamic-pituit
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report
Keywords: تشخیص ژنتیکی; FGFR; fibroblast growth factor receptor; BKT; Binet Kamat intelligence test; ADHD; attention deficit hyperactivity disorder; Craniosynostosis; Apert syndrome; FGFR2; Phenomizer; Genetic diagnosis;
Genetic mutation risk calculation in Lynch syndrome inheritance: Evaluating the utility of the PREMM1,2,6 model in Lyon: The first French study
Keywords: تشخیص ژنتیکی; Familial cancer management; Genetic diagnosis; Lynch syndrome; Multidisciplinary decision-making; Risk assessment;
RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease
Keywords: تشخیص ژنتیکی; RNF213; Moyamoya disease; Susceptibility gene; Genetic diagnosis; Family; Screening; Intracranial; Arterial stenosis;
Prospective : comment traitera-t-on les tumeurs rénales et prostatiques et urothéliales dans 10 ans ?
Keywords: تشخیص ژنتیکی; Cancer urogénitaux; Prospective; Ãpidémiologie; Imagerie 3D; Radiothérapie; Thérapie ciblée; Immunothérapie; Nanomédicaments; Médicaments 3D; Chirurgie robotique; Diagnostic génétique; Technomédecine; Urogenital cancer; Prospective; Epidemiolo
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
Keywords: تشخیص ژنتیکی; Genetic diagnosis; Primary immunodeficiencies; SHORT syndrome;
Review ArticleAn update of common autosomal recessive non-syndromic hearing loss genes in Iranian population
Keywords: تشخیص ژنتیکی; GJB2; Hearing loss; NSHL; Consanguineous marriages; Genetic diagnosis;
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations
Keywords: تشخیص ژنتیکی; Factor XIIIA deficiency; Rare bleeding disorder; Novel mutations; Genetic diagnosis; India;
Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia
Keywords: تشخیص ژنتیکی; G6PD deficiency; genetic diagnosis; neonatal hyperbilirubinemia; thalassemia; UGT1A1 variant
Multiplex Diagnosis of Oncogenic Fusion and MET Exon Skipping by Molecular Counting Using Formalin-Fixed Paraffin Embedded Lung Adenocarcinoma Tissues
Keywords: تشخیص ژنتیکی; Personalized medicine; Molecular counting; Oncogene fusion; MET exon skipping; Genetic diagnosis
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations
Keywords: تشخیص ژنتیکی; Familial hypercholesterolaemia; Biochip array; Mutation detection; Genetic diagnosis;
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing
Keywords: تشخیص ژنتیکی; Deafness; Genetic diagnosis; HDR syndrome; Massively parallel sequencing
The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China
Keywords: تشخیص ژنتیکی; Thalassemia; Genetic diagnosis; Hainan Province; Li people; Han people; Population genetics;
Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), “silent” with mivacurium
Keywords: تشخیص ژنتیکی; Butyrylcholinesterase deficiency; Genetic diagnosis;
Genetic characterization of the blood-sucking nematodes Libyostrongylus dentatus and Libyostrongylus douglassii supports their different evolutionary history
Keywords: تشخیص ژنتیکی; Libyostrongylus douglassii; Libyostrongylus dentatus; Internal Transcribed Spacer; Genetic diagnosis; Nematodes; Struthio camelus;
Hyperthermie maligne : des événements multiples menant à la crise
Keywords: تشخیص ژنتیکی; Hyperthermie maligne; Polytraumatisme; Diagnostic génétiqueMalignant hyperthermia; Polytrauma; Genetic diagnosis
Hereditary Hyperparathyroidism Syndromes
Keywords: تشخیص ژنتیکی; Familial syndromes; genetic diagnosis; oncogenes; primary hyperparathyroidism; tumor suppressor genes;
Nuevas herramientas diagnósticas en la genética de la muerte súbita
Keywords: تشخیص ژنتیکی; Muerte súbita; Nuevas tecnologías; Diagnóstico genético; Canalopatías; MiocardiopatíasSudden death; New technology; Genetic diagnosis; Channelopathy; CardiomyopathyMCD, miocardiopatía dilatada; MCH, miocardiopatía hipertrófica; MSC, muerte súbita cardiaca
Génétique de la maladie de Parkinson
Keywords: تشخیص ژنتیکی; Maladie de Parkinson; Formes monogéniques; Susceptibilité génétique; Diagnostic génétique; Parkinson's disease; Monogenic forms; Genetic susceptibility; Genetic diagnosis;
Les thrombopénies constitutionnelles. De la clinique aux actualités génétiques
Keywords: تشخیص ژنتیکی; Thrombopénie constitutionnelle; Pathologies plaquettaires; Diagnostic génétique; Plaquettes; Inherited thrombocytopenia; Platelet disorders; Genetic diagnosis; Platelets;
Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis
Keywords: تشخیص ژنتیکی; CHIPS; CEL nuclease mediated heteroduplex incision with polyacrylamide gel electrophoresis and silver staining; Mutation screening test; Genetic diagnosis; Enzyme mismatch cleavage; CEL nuclease;
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
Keywords: تشخیص ژنتیکی; CTLN2, adult-onset type II citrullinemia; FRET, fluorescence resonance energy transfer; HRM, high resolution melting; NICCD, neonatal intrahepatic cholestasis caused by citrin deficiency; Tm, melting temperatureCitrin deficiency; Genetic diagnosis; Rapid
One-step nucleic acid amplification for detecting lymph node metastasis of head and neck squamous cell carcinoma
Keywords: تشخیص ژنتیکی; One-step nucleic acid amplification (OSNA); Cytokeratin 19 (CK19); Head and neck squamous cell carcinoma (HNSCC); Lymph node metastasis; Genetic diagnosis
Molecular characterization of familial hypercholesterolemia in Spain
Keywords: تشخیص ژنتیکی; Familial hypercholesterolemia; Low density lipoprotein receptor; Mutations; Dutch Lipid Clinic Network (DLCN) score; Genetic diagnosis;
Production and manipulation of bovine embryos: Techniques and terminology
Keywords: تشخیص ژنتیکی; Cattle embryo; In vivo production; In vitro production; Genetic diagnosis; Transfer;
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family
Keywords: تشخیص ژنتیکی; Autosomal dominant hypercholesterolemia; Familial hypercholesterolemia; Apolipoprotein B 100; Familial ligand defective; Mutation screening; Genetic diagnosis;
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations
Keywords: تشخیص ژنتیکی; X-linked myopathy; Scapuloperoneal; FHL1; Neurogenetics; Muscular dystrophy; Genetic diagnosis;
Les intolérances héréditaires aux disaccharides ou aux oses simples
Keywords: تشخیص ژنتیکی; Maladies héréditaires du métabolisme; intolérances aux sucres; fructosémie; galactosémie; diagnostic génétique; Hereditary metabolic diseases; sugar intolerances; fructosemia; galactosemia; genetic diagnosis;
Trafficking and Transporter Disorders in Pediatric Cholestasis
Keywords: تشخیص ژنتیکی; Pediatric cholestasis; Bile salt export pump; Multidrug resistance protein; Genetic diagnosis; Cell polarity;
Statistical estimation of diagnosis with genetic markers based on decision tree analysis of complex disease
Keywords: تشخیص ژنتیکی; Genetic diagnosis; Decision trees; Multivariate analysis
Mutation in gap and tight junctions in patients with non-syndromic hearing loss
Keywords: تشخیص ژنتیکی; Hearing impairment; Gap junction; Tight junction; Mutation; Deletion; Polymorphism; Heterozygous state; Consanguineous population; Coincidental carrier; Genetic diagnosis