Keywords: توالی انتخابی بعدی; autosomal dominant polycystic kidney disease; ciliopathies; genetic testing; glomerulopathies; inherited kidney diseases; targeted next-generation sequencing;
مقالات ISI توالی انتخابی بعدی (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: توالی انتخابی بعدی; Endoscopic Ultrasound Fine-Needle Aspiration; Malignant Cytology; Targeted Next-Generation Sequencing; Theranostics; Individualized Medicine; EGFR; epidermal growth factor receptor; EUS FNA; endoscopic ultrasound fine-needle aspiration; GIST; gastrointest
Keywords: توالی انتخابی بعدی; Muscular dystrophy; Congenital myopathy; Targeted next-generation sequencing; Prospective diagnostic study; Chinese patients' features;
Keywords: توالی انتخابی بعدی; Thymic carcinoma; Squamous cell carcinoma; Targeted next-generation sequencing; Genetic profiling; Tyrosine kinase gene mutation; Heterogeneous;
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus
Keywords: توالی انتخابی بعدی; DYNC2H1; Short-rib polydactyly syndrome type III; SRTD3; Targeted next-generation sequencing;
Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration
Keywords: توالی انتخابی بعدی; Phospholipase A2-associated neurodegeneration; PLA2G6 mutation; Targeted next-generation sequencing; Extrapyramidal symptoms; Iron accumulation;
Genetic report abstractClinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing
Keywords: توالی انتخابی بعدی; Gerstmann-Sträussler-Scheinker; Prion diseases; PRNP; Targeted next-generation sequencing;
The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing
Keywords: توالی انتخابی بعدی; X-linked intellectual disability; ZDHHC9; de novo hemizygous mutation; Targeted next-generation sequencing;
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
Keywords: توالی انتخابی بعدی; Hypertriglyceridemia; Familial chylomicronemia; LPL; APOA5; LIPC and APOB genes; Targeted next-generation sequencing;
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1
Keywords: توالی انتخابی بعدی; LOXHD1; Targeted next-generation sequencing; DFNB77; Autosomal-recessive nonsyndromic hearing loss; PLAT domain; Molecular modeling;
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family
Keywords: توالی انتخابی بعدی; Hearing; MYO7A; Nonsense-mediated mRNA decay; Targeted next-generation sequencing; Usher syndrome;
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23
Keywords: توالی انتخابی بعدی; PCDH15; Protocadherin-15; DFNB23; Targeted next-generation sequencing
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III
Keywords: توالی انتخابی بعدی; Short rib-polydactyly syndrome; Type III; DYNC2H1; Compound heterozygous mutations; Targeted next-generation sequencing;
Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing
Keywords: توالی انتخابی بعدی; ADPKD; Mutation; PKD1; Targeted next-generation sequencing;