Keywords: جهش های رمان; âx; âfold coverage; cpm; counts per million; MM; malignant mesothelioma; Mesothelioma; Sequencing; Pleural effusion; Mutational landscape; Novel mutations;
مقالات ISI جهش های رمان (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 های رمان; Amyotrophic lateral sclerosis; India; Novel mutations; Targeted next generation sequencing;
Keywords: جهش های رمان; ECM1 gene; extracellular matrix protein 1 gene; LP; lipoid proteinosis; Pt.; patient; Lipoid proteinosis; ECM1 gene; Novel mutations; Clinical variability;
Keywords: جهش های رمان; Iron metabolism; Hereditary hemochromatosis; Next-generation sequencing; Novel mutations; Genetic variants;
Keywords: جهش های رمان; Hereditary folate malabsorption; Severe combined immunodeficiency; Cytokine profile; Pneumocystis pneumonia; Novel mutations;
New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer
Keywords: جهش های رمان; Li-Fraumeni syndrome; Hereditary breast and ovarian cancer (HBOC); Next generation sequencing (NGS); Novel mutations; Multigene panel testing;
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia
Keywords: جهش های رمان; CDA; congenital dyserythropoietic anaemias; PolyPhen; Polymorphism Phenotyping v2; SIFT; Sorting Intolerant From Tolerant; MAF; minor allele frequency; Provean; Protein Variation Effect Analyzer; ExAC; Exome Aggregation Consortium; SNP; single nucleotide
Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene
Keywords: جهش های رمان; Neuronal ceroid lipofuscinosis; Juvenile-onset; Novel mutations; CLN1; PPT1;
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene
Keywords: جهش های رمان; ADPKD; Autosomal Dominant Polycystic Kidney Disease; ESRD; end-stage renal disease; Leucine-rich LRR; leucine rich repeat; WSC; cell wall integrity and stress response component; LDL-A; low density lipoprotein-A; IG-Like; immunoglobulin-like; REJ; recepto
Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation
Keywords: جهش های رمان; Hyper-IgE syndrome; DOCK8 deficiency; Novel mutations; Progressive multifocal leukoencephalopathy; Slow virus; Adrenal Epstein-Barr virus (EBV)-related Leiomyoma;
Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene
Keywords: جهش های رمان; CYP21A2 gene; Salt wasting; Simple virilizing; Non classical; Known mutations; Novel mutations;
Band pattern analysis of mutations in rifampicin resistance strain of Mycobacterium tuberculosis by Line Probe assay in patients from Delhi, India
Keywords: جهش های رمان; MDR; Novel mutations; Band pattern; Sequencing;
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state
Keywords: جهش های رمان; CDKL5 gene; West syndrome (WS); Somatic mosaic; Novel mutations;
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations
Keywords: جهش های رمان; Factor XIIIA deficiency; Rare bleeding disorder; Novel mutations; Genetic diagnosis; India;
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders
Keywords: جهش های رمان; Novel mutations; GM1 gangliosidosis; Sialidosis; Lysosomal storage disorder; GLB1; NEU1;
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy
Keywords: جهش های رمان; TFR2; Hereditary hemochromatosis; Iron overload; Mediterranean area; Novel mutations; Non-HFE hereditary hemochromatosis
Cytogenetyczne i molekularne uwarunkowania agresywnej postaci przewlekÅej biaÅaczki limfocytowej
Keywords: جهش های رمان; przewlekÅa biaÅaczka limfocytowa; aberracje chromosomowe; mikroRNA; nowe mutacje; Chronic lymphocytic leukemia; Chromosomal aberrations; MicroRNAs; Novel mutations;
Unusual Clinical Presentations in Subjects Carrying Novel NOTCH3 Gene Mutations
Keywords: جهش های رمان; NOTCH3 gene; novel mutations; unusual phenotype
Novel mutations of KCNQ1 in Long QT syndrome
Keywords: جهش های رمان; Long QT syndrome; JLN syndrome; 3D KCNQ1 structure; Novel mutations; Family study
Novel mutations in the antifolate drug resistance marker genes among Plasmodium vivax isolates exhibiting severe manifestations
Keywords: جهش های رمان; Plasmodium vivax; Severe manifestations; Antifolate drug resistance; Novel mutations;
A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia
Keywords: جهش های رمان; X-linked hypohidrotic ectodermal dysplasia; EDA; Novel mutations; Displasia ectodérmica hipohidrótica ligada al cromosoma X; EDA; Mutación nueva;
Mutational analysis of JAG1 gene in non-syndromic Tetralogy of Fallot children
Keywords: جهش های رمان; JAG1; Tetralogy of Fallot (TOF); Polymerase chain reaction (PCR); Novel mutations; DNA sequencing;
First report of molecular characterization of fluoroquinolone-resistant Mycobacterium tuberculosis isolates from a Tunisian hospital
Keywords: جهش های رمان; Fluoroquinolones resistance; Mycobacterium tuberculosis; novel mutations;
Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome
Keywords: جهش های رمان; CHARGE syndrome; CHD7 gene; Novel mutations; Splicing defect
Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia
Keywords: جهش های رمان; Novel mutations; LDLR gene; Familial hypercholesterolemia; Tunisian families
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria
Keywords: جهش های رمان; Flavin-containing monooxygenase; FMO3; Novel variants; Novel mutations; V187A; K415 frame shift; Trimethylaminuria; TMAu
KIT and FLT3 receptor tyrosine kinase mutations in acute myeloid leukemia with favorable cytogenetics: Two novel mutations and selective occurrence in leukemia subtypes and age groups
Keywords: جهش های رمان; Receptor tyrosine kinase; Acute myeloid leukemia; KIT; FLT3; Novel mutations; Immunophenotypes
Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR
Keywords: جهش های رمان; Novel mutations; WAS gene; Wiskott–Aldrich syndrome; X-linked thrombocytopenia; Multiplex PCR
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
Keywords: جهش های رمان; Metachromatic leukodystrophy; Novel mutations; Arylsulfatase A deficiency