Keywords: انواع پاتوژنیک; Cancer genetics; BRCA1/2; Whole-genome sequence; ClinVar; Pathogenic variants; Single nucleotide variant
مقالات ISI انواع پاتوژنیک (ترجمه نشده)
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DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores
Keywords: انواع پاتوژنیک; Familial hypercholesterolemia; Familial-defective apolipoprotein B-100; Low-density lipoprotein-receptor; Apolipoprotein B-100; LDLR; APOB; Pathogenic variants; Prevalence; Genotype; Phenotype; Phenotypic characteristics; Diagnostic value; Dutch Lipid Cli
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
Keywords: انواع پاتوژنیک; RTS; Rothmund-Thomson syndrome; RECQL4; RecQ-like DNA helicase type 4; NGS; next-generation sequencing; RAPADILINO; RAdial hypoplasia, PAtellar hypoplasia and cleft or arched PAlate, DIarrhoea and DIslocated joints, LIttle size and LIimb malformation, sle
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
Keywords: انواع پاتوژنیک; Familial hypercholesterolemia; LDLR; PCSK9; APOB; Pathogenic variants;
Stop codons in the hepatitis B surface proteins are enriched during antiviral therapy and are associated with host cell apoptosis
Keywords: انواع پاتوژنیک; Hepatitis B virus; Nucleos(t)ide analogue resistance; Surface stop codons; Pathogenic variants; Apoptosis; Cytopathic variant;
Novel pathogenic ACAN variants in non-syndromic short stature patients
Keywords: انواع پاتوژنیک; SEDK; spondyloepiphyseal dysplasia Kimberley type; OD; osteochondritis dissecans; SEMD; spondyloepimetaphyseal dysplasia; ISS; idiopathic short stature; rhGH; Recombinant human growth hormone; OA; osteoarthritis; pLI; probability of Loss of Function intol
In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene
Keywords: انواع پاتوژنیک; Single nucleotide polymorphism (SNP); Pathogenic variants; Spindle assembly checkpoint; BUB1B gene;
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia
Keywords: انواع پاتوژنیک; Hereditary spastic paraplegia; SPAST; ATL1; Pathogenic variants; Sequencing; Gene;
In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene
Keywords: انواع پاتوژنیک; SIFT; Sorting Intolerant from Tolerant; Polyphen; Phenotype Polymorphism; CFC; Cardio-Facio-Cutaneous; SNP; Single Nucleotide Polymorphism; nsSNP; Nonsynonymous Polymorphism; OMIM; Online Mendelian Inheritance in Man; ANOLEA; Atomic Non-Local Environment
Human liver peroxisomal alanine:glyoxylate aminotransferase: Characterization of the two allelic forms and their pathogenic variants
Keywords: انواع پاتوژنیک; (PH1), Primary Hyperoxaluria Type 1; (PLP), pyridoxal 5′-phosphate; (PMP), pyridoxamine 5′-phosphate; (AGT), alanine:glyoxylate aminotransferasePrimary Hyperoxaluria Type I; Alanine:glyoxylate aminotransferase; Pyridoxal 5′-phosphate; Pathogenic variants