Keywords: اختلالات ژنتیکی; Mitochondrial disease; Genetic disorders; Therapy;
مقالات ISI اختلالات 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: اختلالات ژنتیکی; ANK; ankyrin; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CSL; CBF1, Suppressor of Hairless Lag 1; CHYS1; chondroitin sulfate synthase; Dll; Delta-like; EGF; epidermal growth factor; EOGT; EGF domai
Keywords: اختلالات ژنتیکی; Pregnancy; Management; Genetic disorders; Hereditary hemorrhagic telangiectasia; Tuberous sclerosis; Myotonic dystrophy; Ornithine transcarbamoylase deficiency;
Keywords: اختلالات ژنتیکی; ASS; atypical apraxia of speech; ALS; amyotrophic lateral sclerosis; ATG; autophagy-related; BD; Behçet disease; BPAN; Ã-propeller protein associated neurodegeneration; CMT2B; Charcot-Marie-Tooth neuropathy 2B; DMRV; distal myopathies with rimmed vacuol
Keywords: اختلالات ژنتیکی; Aortic aneurysm; Genetic disorders; Connective tissue disease; Aortic surgery; Marfan syndrome;
Keywords: اختلالات ژنتیکی; Autistic spectrum disorder; Autistic syndrome; Autism; Genetic disorders; Environment; Epigenetics; Multifactorial; Multidimensional approach; Developmental trajectory; Categorical diagnosis; Transnosographic approach;
Keywords: اختلالات ژنتیکی; Multiple system atrophy (MSA); Diagnosis; Neurodegenerative disorders; Genetic disorders; Look-alikes;
Keywords: اختلالات ژنتیکی; Genetic disorders; Genetic literature; Medical genetics; Medical literature; Mendelian disorders;
Keywords: اختلالات ژنتیکی; Genetic disorders; Stroke; Neuroradiology; Interventional radiology; Epistaxis; Hereditary hemorrhagic telangiectasia; Arteriovenous malformationHHT, hereditary hemorrhagic telangiectasia; PAVM, pulmonary arteriovenous malformation; ENG, endoglin gene; AL
Keywords: اختلالات ژنتیکی; Hair follicle; Morphogenesis; Shaft differentiation; Genetic disorders; Alopecia
Keywords: اختلالات ژنتیکی; Cognition; Touchscreen; MAGUK; Genetic disorders;
Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source
Keywords: اختلالات ژنتیکی; Genetic disorders; Mutome repository; Pakistan Genetic Mutation Database; Genetic counseling;
The Changing Sensory and Sympathetic Innervation of the Young, Adult and Aging Mouse Femur
Keywords: اختلالات ژنتیکی; CGRP; calcitonin gene-related peptide; DAPI; 4â²,6-diamidino-2-phenylindole; EDTA; ethylenediaminetetraacetic acid; NGF; nerve growth factor; TH; tyrosine hydroxylase; TrkA; tropomyosin-related kinase receptor A; skeletal; nociceptors; pediatric; genetic
Repint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”
Keywords: اختلالات ژنتیکی; Autistic spectrum disorder; Autistic syndrome; Autism; Genetic disorders; Environment; Epigenetics; Multifactorial; Multidimensional approach; Developmental trajectory; Categorical diagnosis; Transnosographic approach;
Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification
Keywords: اختلالات ژنتیکی; OMT classification; hand anomalies; Mendelian diseases; genetic disorders;
Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome
Keywords: اختلالات ژنتیکی; GNAQ mutations; G protein signaling; Genetic disorders; Homology modeling; Protein-protein interaction networks;
Costotransverse screw fixation in a severe cervicothoracic deformity because of a Type 1 neurofibromatosis: case report
Keywords: اختلالات ژنتیکی; Costotransverse screws; Thoracic spine; Neurofibromatosis; Genetic disorders; Cervical kyphosis; Spinal deformity;
JCL Roundtable: Hypertriglyceridemia due to defects in lipoprotein lipase function
Keywords: اختلالات ژنتیکی; Lipoprotein; Lipase; Hypertriglyceridemia; LPL; Genetic disorders;
PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing
Keywords: اختلالات ژنتیکی; 24-chromosome aneuploidy testing; concomitant PGD; cystic fibrosis patients; genetic disorders; PGD;
Congenital and Acquired Disorders Presenting as Psychosis in Children and Young Adults
Keywords: اختلالات ژنتیکی; Psychosis; Congenital disorders; Inherited disorders; Genetic disorders; Differential diagnosis;
High-resolution melting: Applications in genetic disorders
Keywords: اختلالات ژنتیکی; High-resolution melting analysis; Mutation; Genetic disorders; Gene scanning;
Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives
Keywords: اختلالات ژنتیکی; Latin America; Primary immunodeficiency; Recurrent infections; Immunoglobulins; Genetic disorders;
European Association of Urology Guidelines on Male Infertility: The 2012 Update
Keywords: اختلالات ژنتیکی; Male infertility; EAU guidelines; Oligospermia; Azoospermia; Varicocele; Hypogonadism; Urogenital infection; Genetic disorders; Cryptorchidism
Profile of genetic disorders prevalent in northeast region of Cairo, Egypt
Keywords: اختلالات ژنتیکی; Genetic disorders; Congenital malformations; Inbreeding profile; Northeast region; Cairo; Egypt
A Practical Approach to Molecular Diagnostic Testing in Neuromuscular Diseases
Keywords: اختلالات ژنتیکی; Neuromuscular diseases; Molecular diagnostic testing; Genomic technologies; Genetic disorders;
Association analysis of the GDNF gene with methamphetamine use disorder in a Japanese population
Keywords: اختلالات ژنتیکی; MAP; methamphetamine; GDNF; Glial cell line-derived neurotrophic factor; DA; dopamine; UTR; untranslated region; SNP; single nucleotide polymorphism; GFRA; GDNF family receptor alpha; RET; rearranged during transfection; JGIDA; Japanese Genetics Initiativ
Characterisation of sleep problems in children with Williams syndrome
Keywords: اختلالات ژنتیکی; CSHQ, Child Sleep Habits Questionnaire; SRE, sleep-related enuresis; TD, typically developing children; WS, Williams syndromeSleep; Genetic disorders; Williams syndrome
Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases
Keywords: اختلالات ژنتیکی; Pre-mRNA splicing; Antisense morpholino oligonucleotides; Genetic disorders; Primary immunodeficiency diseases;
Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase
Keywords: اختلالات ژنتیکی; Hypoglycemia; Hyperinsulinism; Beta-cell; Insulin; Leucine-sensitive; Genetic disorders; Children
Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC–ESI-MSn analysis
Keywords: اختلالات ژنتیکی; Derivatization; FTMS; Multi-stage CID fragmentation; LC–ESI-MSn; Keto sterols; Bile alcohols; Genetic disorders
Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines
Keywords: اختلالات ژنتیکی; Banques de données génétiques; LSDB; Mutations; Maladies génétiquesHuman variation database; LSDB; Mutations; Genetic disorders
Analysis of Autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease
Keywords: اختلالات ژنتیکی; image analysis; genetic disorders; electroretinography; retinal dystrophy; scanning laser opthalmoscopy
Pediatric Bone Marrow Interpretation
Keywords: اختلالات ژنتیکی; Bone marrow; Pediatric cancer; T cell; Marrow infiltrates; Genetic disorders;
People with learning disability, and ageing
Keywords: اختلالات ژنتیکی; ageing; assessment; dementia; Down syndrome; genetic disorders; learning disability; management; older people
PGD-derived human embryonic stem cell lines as a powerful tool for the study of human genetic disorders
Keywords: اختلالات ژنتیکی; Human embryonic stem cells; Preimplantation genetic diagnosis (PGD); Genetic disorders
Behavioural phenotypes
Keywords: اختلالات ژنتیکی; behavioural phenotype; cognitive phenotype; genetic disorders; genetic mechanisms; genotype
Genetics and mathematics: Evidence from Prader-Willi syndrome
Keywords: اختلالات ژنتیکی; Prader-Willi syndrome; Genetic disorders; Numbers; Calculation; Visuo-spatial system
Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic intervention
Keywords: اختلالات ژنتیکی; Gaucher disease; Genetic disorders; Therapy; Lipids; Mass spectrometry
Quoi de neuf en recherche dermatologique ?
Keywords: اختلالات ژنتیکی; Voies de signalisation Wnt; Génodermatoses; Rosacée; Acné; Prurit; Dermatoses bulleuses auto-immunes; Fonction barrière épidermique; Psoriasis; Thérapeutiques; Wnt signaling; Genetic disorders; Rosacea; Acne; Itch; Autoimmune bullous diseases; Skin-
The molecular basis of hereditary red cell membrane disorders
Keywords: اختلالات ژنتیکی; Red cell membrane; Proteins; Genes; Diagnosis; Genetic disorders
Longitudinal changes in ultrasound measurements: A parallel study in subjects with genetic disorders and healthy controls
Keywords: اختلالات ژنتیکی; Follow-up; Genetic disorders; Hand phalanges; Quantitative ultrasound;
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]
Keywords: اختلالات ژنتیکی; Charcot-Marie-Tooth disease; Ascorbic acid; Randomized controlled trial; Neuropathy; Genetic disorders; PMP22
Familial hypercholesterolemia: ethical, practical and psychological problems from the perspective of patients
Keywords: اختلالات ژنتیکی; Familial hypercholesterolemia; Ethics; Management; Genetic disorders; Qualitative interview;
New Directions in Cytogenetic and Molecular Testing of the Neonate
Keywords: اختلالات ژنتیکی; cytogenetic testing; molecular testing; genetic disorders;
EAU Guidelines on Male Infertility
Keywords: اختلالات ژنتیکی; Male infertility; EAU guidelines; Oligospermia; Azoospermia; Varicocele; Hypogonadism; Urogenital infection; Genetic disorders; Cryptorchidism;