Keywords: گزینه های مهم ناشناخته; Hereditary breast cancer; Gene panel testing; Personalized care; Variants of unknown significance;
مقالات ISI گزینه های مهم ناشناخته (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: گزینه های مهم ناشناخته; ACMG; American College of Medical Genetics; NGS; Next-generation sequencing; PCR; Polymerase chain reaction; PKU; Phenylketonuria; VLCAD; Very long chain acyl-CoA dehydrogenase; VUS; Variants of unknown significance; WES; Whole exome sequencing; WGS; Whol
BRCA1/BRCA2 Germline Mutation Carriers and Sporadic Pancreatic Ductal Adenocarcinoma
Keywords: گزینه های مهم ناشناخته; BRCA1; breast cancer 1; BRCA2; breast cancer 2; DFS; disease-free survival; HR; hazard ratio; NGS; next-generation sequencing; OS; overall survival; PDAC; pancreatic ductal adenocarcinoma; VUS; variants of unknown significance; WT; BRCA1/BRCA2 wild-type;
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
Keywords: گزینه های مهم ناشناخته; FOXN1; Forkhead box N1; SCID; severe combined immunodeficiency; DGS; Di-George Syndrome; VUS; variants of unknown significance; FOXN1; Alopecia; Nail dystrophy; T-cell immunodeficiency;
Original ArticleIn silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample
Keywords: گزینه های مهم ناشناخته; BRCA1; BRCA2; variants of unknown significance; cDNA; splicing; cancer genetic counseling;
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage
Keywords: گزینه های مهم ناشناخته; Lynch syndrome; Mismatch repair; MSH2; MSH6; Second hit; Variants of unknown significance
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
Keywords: گزینه های مهم ناشناخته; ARNSHL; Autosomal recessive non syndromic hearing loss; Cx26; Connexin 26; HL; Hearing loss; PCR; Polymerase chain reaction; VUS; variants of unknown significance; Deafness; Connexin 26; Tunisia;
A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin
Keywords: گزینه های مهم ناشناخته; VUS; variants of unknown significance; CDDP; cisplatin; DDR; DNA damage repair; ELISA; enzyme-linked immunosorbent assay; CDDE; cell death detection ELISA; FCRR; Ruth Ann Minner High Risk Family Cancer Registry; BRCA2; Breast cancer; Cisplatin; Variants o
cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation
Keywords: گزینه های مهم ناشناخته; VUSs; variants of unknown significance; ESEs; exon splicing enhancers; SF1; splicing factor 1; U2AF; U2 auxiliary factor; BIC; Breast Cancer Information Core; BRCA2; Splice mutation; Intron; Breast cancer; mRNA;