Keywords: جهش مبنای; EIF2B3; founder mutation; headaches; Quebec; vanishing white matter disease
مقالات ISI جهش مبنای (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: جهش مبنای; LGMD, limb-girdle muscular dystrophy; SG, sarcoglycan; DGC, dystrophin-glycoprotein complex; IHC, immunohistochemistry; CK, creatine kinaseLimb-girdle muscular dystrophy type 2D; Sarcoglycan; Sarcoglycanopathy; The SGCA gene; Founder mutation; Taiwan
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA)
Keywords: جهش مبنای; ALP; alkaline phosphatase; CIPA; congenital insensitivity to pain with anhidrosis; HSAN IV; autonomic neuropathy type IV; NGF; nerve growth factor; NTRK1; brachydactyly; TrkA; tyrosine kinase receptor A; β-CTX; βcross-linked C-telopeptide of type 1 coll
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
Keywords: جهش مبنای; MYH7; Founder mutation; Distal myopathy; Muscle MRI; Genetic linkage analysis;
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family
Keywords: جهش مبنای; Pontocerebellar hypoplasia type 10; Autosomal recessive; Founder mutation; Whole exome sequencing; CLP1;
Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan
Keywords: جهش مبنای; Xeroderma pigmentosum; XP-A; Brain atrophy; Gray matter volume; Founder mutation;
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families
Keywords: جهش مبنای; Arrhythmia; LQTS; Founder mutation; Next generation sequencing; Genetic testing; Iran;
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin
Keywords: جهش مبنای; Ectopia lentis; Founder mutation; ADAMTSL4; Marfan syndrome; Bukharian Jews;
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers
Keywords: جهش مبنای; Hereditary breast cancer; CHEK2; founder mutation; breast cancer; cancer risk;
An Ashkenazi founder mutation in the PKHD1 gene
Keywords: جهش مبنای; ARPKD; Ashkenazi; Founder mutation; PKHD1; c.3761_3762delCCinsG
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
Keywords: جهش مبنای; Joubert syndrome; Meckel-Gruber syndrome; Multiple sequence alignment; Evolutionary conservation; MKS1; Corpus-Callosum agenesis; Genotype-phenotype correlation; Ciliopathy; Dysmorphology; Syndromology; Bioinformatics; Missense-mutation; Founder mutation
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Keywords: جهش مبنای; CHRNE; Acetylcholine receptor; Congenital myasthenic syndrome; Congenital myasthenia; Roma gypsies; Neuromuscular junction; Pyridostigmine; 3,4-Diaminopyridine; Founder mutation;
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
Keywords: جهش مبنای; GNE myopathy; Founder mutation; Phenotype
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients
Keywords: جهش مبنای; Fukuyama congenital muscular dystrophy; FKTN; 3-kb insertion; Haplotype analysis; Founder mutation
Identification of a founder mutation for Pendred syndrome in families from northwest Iran
Keywords: جهش مبنای; Pendred syndrome; SLC26A4 gene; Linkage analysis; Haplotype analysis; Founder mutation; Iran
Amount of bone marrow blasts is strongly correlated to NPM1 and FLT3-ITD mutation rate in AML with normal karyotype
Keywords: جهش مبنای; NPM1 mutation; Founder mutation; FLT3-ITD; Blast percentages; Normal karyotype AML
Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation
Keywords: جهش مبنای; Dominant-negative mutation; Founder mutation; Gene mutation; Ion channel; Long QT syndromeCI, confidence interval; cM, centi-Morgan (106 base pairs); LQTS, long QT syndrome
Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America
Keywords: جهش مبنای; Primary dysferlinopathies; Miyoshi myopathy; LGMD2B; HyperCKemia; Founder mutation;
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
Keywords: جهش مبنای; Mitochondrial DNA depletion syndrome; DGUOK gene; Hepatoencephalopathy; Founder mutation; In silico structure analysis;
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
Keywords: جهش مبنای; CMT4C; Founder mutation; Genotype-phenotype correlations;
High frequency of BRCA1 5382insC mutation in Russian breast cancer patients
Keywords: جهش مبنای; BRCA1; Breast cancer; Susceptibility; Founder mutation
Large genomic BRCA2 rearrangements and male breast cancer
Keywords: جهش مبنای; Breast cancer susceptibility gene 2; Tumor suppressor; Risk factor; Familial cancer; Multiplex ligation-dependent probe amplification; MLPA; Mutation detection; Genomic alteration; Germ-line mutation; Founder mutation; CHEK2; BRCA1
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population
Keywords: جهش مبنای; Xeroderma pigmentosum A (XPA); Founder mutation; Heterozygous carriers; Japanese population