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CN1699 Our Business - Guide for Agents
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Methods and software to analyze gene-environment interactions under a case-mother - control-mother design with partially missing child genotype
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A common variant of ARRB2 promoter region Associated with the Prognosis of Heart Failure
Introduction The role of ARRB2 in cardiovascular disease has recently gained increasing attention. However, the associatio...
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Polymorphisms of placental iodothyronine deiodinase genes in a rural area of Northern China with high prevalence of neural tube defects
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Identification of a hypoxia-related signature as candidate detector for schizophrenia based on genome-wide gene expression
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A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review
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A comprehensive study of mutations in PAH, QDPR, PTS, and PCD genes in Iranian patients with Hyperphenylalaninemia; A systematic review
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Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR
<b><i>Objective:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked geneti...
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The Prevalence of JAK2 Exon 12 Mutations in Vietnamese Patients with JAK2 V617F-Negative Polycythemia Vera: Frequent or Rare?
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Reduction of missed diagnosis of G6PD deficiency in heterozygous females by G6PD/6PGD ratio assay combined with ARMS-PCR
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Common Variants in Neuraminidase Genes Contribute to Predisposition to and Progression of Chronic Heart Failure
<b><i>Introduction:</i></b> The role of neuraminidases in cardiovascular disease has recently gain...
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The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?
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Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-eclampsia
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Common variants in Neuraminidases genes contribute to predisposition to and progression of chronic heart failure
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Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes
Introduction: Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able...
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Identification of a novel mutation in patients with type A insulin resistance syndrome
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Identification of CHEK2 Germline Mutations in BRCA1/2- and PALB2-Negative Breast and Ovarian Cancer Patients
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The Mitochondrial tRNAAsp T7561C, tRNAHis C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree
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50th European Mathematical Genetics Meeting (EMGM) 2022
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The mitochondrial tRNAAsp T7561C, tRNAHis C12153T and A12172G mutations may be associated with essential hypertension in a Han Chinese pedigree
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Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts
Enamel hypoplasia causes reduction in the thickness of affected enamel and is one of the most common dental anomalies. Thi...
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Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients
Introduction: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycl...
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Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy
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49th European Mathematical Genetics Meeting (EMGM) 2021
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Association of PNPLA3 I148M with Liver Disease Biomarkers in Latinos
<b><i>Introduction:</i></b> Liver disease accounts for approximately 2 million deaths per year wor...
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Family history of breast cancer is associated with elevated risk of prostate cancer: evidence for shared genetic risks
Introduction: Although breast and prostate cancers arise in different organs and are more frequent in the opposite sex, mu...
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Association of PNPLA3 I148M with liver disease biomarkers in Latinos
Introduction. Liver disease accounts for approximately 2 million deaths per year worldwide. The majority of liver diseases...
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Exome-Wide Pan-Cancer Analysis of Germline Variants in 8,719 Individuals Finds Little Evidence of Rare Variant Associations
<b><i>Background:</i></b> Many cancer types show considerable heritability, and extensive research...
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Importance of Family History in the Era of Exome Analysis: A Report of a Family with Multiple Concurrent Genetic Diseases
Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in de...
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Meta-Analysis of Joint Test of SNP and SNP-Environment Interaction with Heterogeneity
Many complex diseases are caused by single nucleotide polymorphisms (SNPs), environmental factors, and the interaction bet...
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PhosSNPs-Regulated Gene Network and Pathway Significant for Rheumatoid Arthritis
<b><i>Objectives:</i></b> Peripheral blood mononuclear cells (PBMCs) are critical for immunity and...
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