Keywords: هتروزیگوت ترکیبی; SUOX; sulfite oxidase; Compound heterozygote; Point mutation; Missense mutation; Transition; Transversion; Fibroblasts; Sulfite oxidase activity;
مقالات ISI هتروزیگوت ترکیبی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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: هتروزیگوت ترکیبی; ACTA1; alfa-actin; ALT; alanine aminotransferase; AS-PCR; allele specific-polymerase chain reaction; AST; aspartate aminotransferase; CFL2; cofilin2; CO2; carbon dioxide; CT; computed tomography; DNA; deoxyribonucleic acid; ESP6500; Exome Sequencing Proje
Keywords: هتروزیگوت ترکیبی; AK; actinic keratosis; CH; compound heterozygote; GCDH; generalized collapsed double heterozygosity; GST; glutathione-S-transferases; GWAS; Genome-Wide Association Study; RS; Rotterdam Study; SCC; squamous cell carcinoma; SNP; single nucleotide polymorphi
Keywords: هتروزیگوت ترکیبی; Hypercholesterolaemia; Homozygote; Compound heterozygote; Lipoprotein apheresis
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
Keywords: هتروزیگوت ترکیبی; Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Compound heterozygote; Point mutation; Cerebellar ataxia; Zellweger syndrome; AFP; alpha fetoprotein; BWA; Burrows Wheeler Aligner; DHA; docosahexaenoic acid; dma; dimethyl acetal; F
An AOA2 patient with a novel compound heterozygous SETX frame shift mutations
Keywords: هتروزیگوت ترکیبی; AOA2; Compound heterozygote; SETX; Frame shift mutation;
Compound heterozygosity in a South African patient with Facioscapulohumeral muscular dystrophy
Keywords: هتروزیگوت ترکیبی; Facioscapulohumeral muscular dystrophy; FSHD; Compound heterozygote; Muscular dystrophy; Genotype-phenotype correlation;
Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models
Keywords: هتروزیگوت ترکیبی; AUC; area under the curve; CH; compound heterozygote; CS; Cockayne syndrome; GG-NER; global genome NER; IGF-1; insulin-like growth factor 1; IGF-1R; insulin-like growth factor receptor; IR; ionizing radiation; MDF; mouse dermal fibroblast; MEF; mouse embr
Novel mutations in pyridoxine-dependent epilepsy
Keywords: هتروزیگوت ترکیبی; Pyridoxine-dependent; Epilepsy; Neonates; Seizure; Compound heterozygote
Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates
Keywords: هتروزیگوت ترکیبی; Osteoporosis-pseudoglioma; Compound heterozygote; Juvenile osteoporosis; Blindness; LRP5;
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease
Keywords: هتروزیگوت ترکیبی; Compound heterozygote; DAP12; Loss of function mutations; TYROBP; Nasu-Hakola disease
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
Keywords: هتروزیگوت ترکیبی; LRP5; Osteoporosis; Blindness; Compound heterozygote; Osteoporosis pseudoglioma
δ-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations
Keywords: هتروزیگوت ترکیبی; Doss porphyria; Hepatic porphyria; δ-Aminolevulinate dehydratase; Compound heterozygote; Point mutation
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)
Keywords: هتروزیگوت ترکیبی; SEPN1; Selenoprotein N; SEPN-RM; Compound heterozygote;