Keywords: نوع از اهمیت ناشناخته; Hereditary breast cancer; Genetic predisposition; Variant of unknown significance; Gene-panel testing; Pathogenic variant;
مقالات ISI نوع از اهمیت ناشناخته (ترجمه نشده)
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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: نوع از اهمیت ناشناخته; Atypical hemolytic uremic syndrome; Complement; Eculizumab; Terminal complement inhibitor; Thrombotic microangiopathy; AH50; Alternative pathway function; TMA; Thrombotic microangiopathy; HUS; Hemolytic uremic syndrome; aHUS; Atypical HUS; LDH; Lactate de
Keywords: نوع از اهمیت ناشناخته; CK; Creatine kinase; DBS; Dried blood spot; GAA; Alpha-glucosidase; GAG; Glycosaminoglycan; GBA; Beta-glucosidase; IDUA; Alpha-L-iduronidase; IOPD; Infantile-onset Pompe disease; LOPD; Late-onset Pompe disease; LSD; Lysosomal storage disorder; MPS; Mucopo
Keywords: نوع از اهمیت ناشناخته; Prenatal diagnosis; Microarray comparative genomic hybridization; Abnormal ultrasounds; Characterization of chromosomal rearrangements; aCGH; Microarray comparative genomic hybridization; CNV; Copy number variation; CPDPN; Pluridisciplinary centers for pr
Keywords: نوع از اهمیت ناشناخته; ACMGG; American College of Medical Genetics and Genomics; EMR; electronic medical record; GWAS; genome-wide association study; HGP; Human Genome Project; SNP; single-nucleotide polymorphism; WES; whole-exome sequencing; WGS; whole-genome sequencing; VUS;
Keywords: نوع از اهمیت ناشناخته; AHA; American Heart Association; ARVC; arrhythmogenic right ventricular cardiomyopathy; BrS; Brugada syndrome; ChIP; channel interacting protein; CPVT; catecholaminergic polymorphic ventricular tachycardia; DCM; dilated cardiomyopathy; EHRA; European Hear
Keywords: نوع از اهمیت ناشناخته; African Descent; Colon Cancer; DNA Repair; Hereditary Non-Polyposis Colorectal Cancer; AA; African American; CCFR; Colon Cancer Family Registry; CRC; colorectal cancer; HR; hazard ratios; MMR; mutations in mismatch repair; MSI; microsatellite instability;
Keywords: نوع از اهمیت ناشناخته; Prenatal microarray; Guidelines; Prenatal diagnosis; Copy number variant; Variant of unknown significance; Incidental finding
Keywords: نوع از اهمیت ناشناخته; AR; autosomal recessive; PDRE; pediatric drug-resistant epilepsy; DRE; drug-resistant epilepsy; EE; epileptic encephalopathy; WES; whole exome sequencing; VUS; variant of unknown significance; AED; antiepileptic drug; IGE; idiopathic generalized epilepsy;
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome
Keywords: نوع از اهمیت ناشناخته; cardiomyopathy; channelopathy; molecular autopsy; next-generation sequencing; unexplained sudden death; ACM; arrhythmogenic cardiomyopathy; ACMG; American College of Medical Genetics; BrS; Brugada syndrome; CPVT; catecholaminergic polymorphic ventricular
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in a young female athlete at 36 weeks gestation: a case report
Keywords: نوع از اهمیت ناشناخته; ACLS; advanced cardiac life support; ARVC; arrhythmogenic right ventricular cardiomyopathy; ARVD; arrhythmogenic right ventricular dysplasia; CMP; cardiomyopathy; ECHO; echocardiogram; EKG; electrocardiogram; HCM; hypertrophic cardiomyopathy; PVC; prematu
Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy
Keywords: نوع از اهمیت ناشناخته; ACM; Arrhythmogenic cardiomyopathy; ARVC; Arrhythmogenic right ventricular cardiomyopathy; DCM; Dilated cardiomyopathy; IHC; Immunohistochemistry; LVAD; Left ventricular assist device; NGS; Next-generation sequencing; PLN; Phospholamban; RVEMB; Right vent
Polygenic case of long QT syndrome confirmed through functional characterization informs the interpretation of genetic screening results
Keywords: نوع از اهمیت ناشناخته; APD; action potential duration; APD90; action potential duration at 90% repolarization; ECG; electrocardiogram; HEK; human embryonic kidney; LQT; long QT; LQTS; long QT syndrome; LQT(2-3); long QT syndrome type (2-3); VUS; variant of unknown significance;
The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology
Keywords: نوع از اهمیت ناشناخته; AF; atrial fibrillation; BrS; Brugada syndrome; DCM; dilated cardiomyopathy; ECG; electrocardiogram; Foxo1; Forkhead Box O1; GWAS; Genome Wide Association Study; INa; sodium current; INa,L; late component of the sodium current; Kb; kilobases; LQTS; Long Q
Interpretation of Copy Number Alterations Identified Through Clinical Microarray-Comparative Genomic Hybridization
Keywords: نوع از اهمیت ناشناخته; Oligonucleotide microarray; Copy number alteration; Variant of unknown significance; Deletion; Duplication;
Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing
Keywords: نوع از اهمیت ناشناخته; Medium-chain acyl-coA dehydrogenase; Fatty acid oxidation; Biochemical genetics; Gene sequencing; Variant of unknown significance; Newborn screening; In silico