Keywords: Ashkenazi Jewish; Carrier screening; Cystic fibrosis; Spinal muscular atrophy; Tay-Sachs disease;
مقالات ISI (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: Ashkenazi Jewish; genetic screening; genomic medicine; preconception care; prenatal testing;
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population
Keywords: AD; autosomal dominant; AJ; Ashkenazi Jewish; AR; autosomal recessive; BCVA; best-corrected visual acuity; BSP; bone spicule; EOG; electro-oculography; ERG; electroretinography; FA; fluorescein angiography; FAF; fundus autofluorescence; FC; finger countin
Children with type 1 Gaucher disease: Changing profiles in the 21st century
Keywords: Ashkenazi Jewish; Enzyme replacement therapy; Genotype-phenotype correlation; Height growth; Large-scale screening;
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes
Keywords: Multigene panels; BRCA1; BRCA2; Ashkenazi Jewish; Cancer genetics;
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance
Keywords: HMPS1; CRC; Colon Cancer Susceptibility; Polyposis; AJ; Ashkenazi Jewish; APC; adenomatous polyposis coli; CRC; colorectal cancer; FAP; familial adenomatous polyposis; HMPS1; hereditary mixed polyposis syndrome; TVA; tubulovillous adenoma;
Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry
Keywords: ancestry; Ashkenazi Jewish; BRCA; cost-effectiveness; population testing;
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF
Keywords: IBD; Inflammatory Bowel Disease; Risk Factor; Ethnic Variation; AJ; Ashkenazi Jewish; AKT; AK strain transforming; CD; Crohn's disease; CRC; colorectal cancer; CSF2RA; CSF-receptor, α chain; CSF2RB; CSF-receptor, β chain; CyTOF; time-of-flight mass cyto
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Phenotype in patients with Gaucher disease and Parkinson disease ★
Keywords: Gaucher disease; Parkinson disease; Glucocerebrosidase; Genotype; Ashkenazi Jewish; Enzyme replacement therapy
Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer
Keywords: Checkpoint kinase 2; Prostate cancer; CHEK2; Single-nucleotide polymorphism; Ashkenazi Jewish; Budding yeast
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification
Keywords: Tay-Sachs disease; Sandhoff disease; Carrier detection; Hexosaminidase; Lysosomal storage disorder; Ashkenazi Jewish; HEXA; HEXB