Keywords: غربالگری جهش; Homozygous FH; Mutation screening; New mutations;
مقالات ISI غربالگری جهش (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: غربالگری جهش; Blood catalase; Catalase decrease; Mutation screening; Novel catalase exon mutations; Diabetes mellitus; Microcytic anemia;
Keywords: غربالگری جهش; mutation screening; premature ovarian failure (POF); progesterone receptor membrane component 1 (PGRMC1);
Keywords: غربالگری جهش; Isovaleric acidemia; IVD gene; Mutation screening; Genotype–phenotype correlation
Keywords: غربالگری جهش; Gold nanoparticles; Glucose-6-phosphate dehydrogenase (G6PD) deficiency; Mutation screening; Multiplex detection; Gel electrophoresis
Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population
Keywords: غربالگری جهش; TMEM230; Parkinson's disease; IPDGC; Rotterdam Study Exome Sequencing Database; SKAT-O; Mutation screening;
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis
Keywords: غربالگری جهش; ALS; SOD1; C9ORF72; Mutation screening; Repeat expansion;
Peptide nucleic acid probe-based fluorescence melting curve analysis for rapid screening of common JAK2, MPL, and CALR mutations
Keywords: غربالگری جهش; Peptide nucleic acid; FMCA; Mutation screening; JAK2; MPL; CALR;
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism
Keywords: غربالگری جهش; Autosomal recessive juvenile Parkinsonism; Whole exome sequencing; Synaptojanin 1; Mutation screening;
PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data
Keywords: غربالگری جهش; Autosomal dominant polycystic kidney disease; Linkage analysis; Mutation screening; Recombination
A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer
Keywords: غربالگری جهش; Sporadic breast cancer; BRCA2; Mutation screening; In frame deletionCancer du sein sporadique; BRCA2; Recherche de mutation; Délétion en phase
Comparative screening of FMF mutations in various communities of the Israeli society
Keywords: غربالگری جهش; Familial Mediterranean Fever; Mutation screening; MEFV gene; Israeli communities
Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China
Keywords: غربالگری جهش; Prophylactic thyroidectomy; Medullary thyroid carcinoma; RET; Mutation screening; Serum calcitonin; Fully-automated chemiluminescence immunoassay
LHX1 mutation screening in 96Â patients with müllerian duct abnormalities
Keywords: غربالگری جهش; Müllerian duct abnormalities; LHX 1; mutation screening;
A novel 7Â bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family
Keywords: غربالگری جهش; autosomal dominant retinitis pigmentosa; PRPF31; linkage analysis; mutation screening; haplotype analysis; RP11 locus;
A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA
Keywords: غربالگری جهش; Ehlers-Danlos syndrome, vascular type (vEDS); COL3A1; Mutation screening; High-resolution melting curve analysis (hrMCA)vEDS, Ehlers-Danlos syndrome vascular type; COL3A1, type III procollagen gene; hrMCA, high-resolution melting curve analysis; SAG, smal
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family
Keywords: غربالگری جهش; Autosomal dominant hypercholesterolemia; Familial hypercholesterolemia; Apolipoprotein B 100; Familial ligand defective; Mutation screening; Genetic diagnosis;
Chronic Myeloid Leukemia: Mechanisms of Resistance and Treatment
Keywords: غربالگری جهش; Myeloproliferative disorders; Tyrosine kinase inhibitors; Mutation screening; Homoharringtonine; Multikinase inhibitors;
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)
Keywords: غربالگری جهش; Biotinidase deficiency; PCR; dHPLC; Mutation screening;
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients
Keywords: غربالگری جهش; MECP2; Rett syndrome; Mutation screening; X-linked dominant disease
New technologies in the genetic approach to sudden cardiac death in the young
Keywords: غربالگری جهش; Sudden cardiac death; Cardiomyopathies; Arrythmogenic diseases; Mutation screening; Next generation sequencing; Genome wide association studies
KRAS status and epidermal growth factor receptor expression as determinants for anti-EGFR therapies in salivary gland carcinomas
Keywords: غربالگری جهش; Epidermal growth factor receptor; KRAS; Mutation screening; Salivary gland carcinomas; EGFR-targeted therapy
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
Keywords: غربالگری جهش; Mitochondrial complex I deficiency; Respiratory chain diseases; Surveyor nuclease; Mutation screening;
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
Keywords: غربالگری جهش; Moebius syndrome; Facial palsy; Short tandem repeat; Microdeletion; Candidate gene; Mutation screening
Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome
Keywords: غربالگری جهش; Möbius syndrome; facial palsy; candidate gene; BASP1; transcribed processed pseudogene; non-coding RNA; mutation screening
Cochlear implantation in individuals with Usher type 1 syndrome
Keywords: غربالگری جهش; Cochlear implantation; Speech perception; Usher syndrome; Mutation screening
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis
Keywords: غربالگری جهش; DHPLC analysis; DMD; Dystrophin; Mutation screening
Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: First report from Thailand
Keywords: غربالگری جهش; ARX; X-linked mental retardation; Mutation screening; Duplication mutation; SSCP; Thailand
Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples
Keywords: غربالگری جهش; X-Linked Alport syndrome; linkage analysis; microsatellite markers; mutation screening; COL4A5 gene; hair root complementary DNA; splicing mutations;
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset
Keywords: غربالگری جهش; CMT; Mutation screening; GJB1 (connexin 32)
Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects
Keywords: غربالگری جهش; Glucose-6-phosphate dehydrogenase deficiency; Multiplex primer extension reaction; Mutation screening; Chinese population; Erythrocytes
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)
Keywords: غربالگری جهش; Greig cephalopolysyndactyly syndrome; GCPS; CGS; Microdeletion; Phenotype–genotype correlation; Polymorphic marker analysis; FISH analysis; Mutation screening; GLI3; PGAM2
Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation
Keywords: غربالگری جهش; Retinoblastoma; RB1; Germline mutation; Molecular genetics; Mutation screening
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations
Keywords: غربالگری جهش; Tyrosinemia type II; Amino acidemias; Structural models; Mutation screening; Haplotype analysis; Clinical heterogeneity
Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients
Keywords: غربالگری جهش; COL9A3; Hearing loss; Mutation screening;
Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer
Keywords: غربالگری جهش; HNPCC; Mismatch repair genes; MSH2; MLH1; Mutation screening; Founder;
Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performance liquid chromatography
Keywords: غربالگری جهش; Denaturing high-performance liquid chromatography; Glucose-6-phosphate dehydrogenase deficiency; Heteroduplex formation; Mutation screening;
The molecular basis of familial hypercholesterolaemia in Turkish patients
Keywords: غربالگری جهش; Familial hypercholesterolaemia; FH; LDLR; SSCP; Turkish; Mutation screening;
Identification of Multiple Serine Racemase (SRR) mRNA Isoforms and Genetic Analyses of SRR and DAO in Schizophrenia and d-Serine Levels
Keywords: غربالگری جهش; Alternative splicing; genotype-phenotype correlation; glycine site; mutation screening; N-methyl-D-aspartate receptor; polymorphism;