Keywords: ابدی; CAD; Coronary artery disease; CHD; Coronary heart disease; CVD; Cardiovascular disease; GP; Genetic profiles; HWE; Hardy-Weinberg equilibrium; INE; National Institute of Statistics; LD; Linkage disequilibrium; LDLR; Low density lipoprotein receptor; MAF;
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Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases
Keywords: ابدی; AR; autosomal recessive; EB; epidermolysis bullosa; GATK; Genome Analysis Toolkit; HM; homozygosity mapping; Mb; mega base pair; NGS; next-generation sequencing; ROH; region of homozygosity; SNP; single nucleotide polymorphism; WES; whole-exome sequencing
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis
Keywords: ابدی; XP-E; XP-D; Founder mutations; WES; ROH;
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
Keywords: ابدی; BLOC; Biogenesis of Lysosome-related Organelles Complex; DTNBP1; Dystrobrevin binding protein 1; HPS; Hermansky-Pudlak syndrome; PCR; polymerase chain reaction; ROH; regions of homozygosity; SNP; single-nucleotide polymorphism; Biogenesis of Lysosome-rela
Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction
Keywords: ابدی; AC; abdominal circumference; BPD; biparietal diameter; CNVs; copy number variations; CDT1; chromatin licensing and DNA replication factor 1; CMA; chromosome microarray analysis; CMV; cytomegalovirus; DMRs; differentially methylated regions; ET; embryo tra
Development, validation and application of multi-point kinetics model in RELAP5 for analysis of asymmetric nuclear transients
Keywords: ابدی; D. Reactor engineering; ASDV; atmospheric steam dump valve; ECCS; emergency core cooling system; IRV; instrumented relief valve; IQS; improved quasi-static; LOCA; loss of coolant accident; LORA; loss of regulation accident; LWR; light water reactor; NPP;
Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci
Keywords: ابدی; Amyotrophic lateral sclerosis; ALS; Runs of homozyosity; ROH; Irish population; Panmixia; Population density;
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency
Keywords: ابدی; AA; amino acid; CT; computed tomography; MAF; minor allele frequency; MRI; magnetic resonance imaging; ROH; runs of homozygosity; SAH; S-adenosylhomocysteine; SAM; S-adenosylmethionine; Hepatocellular carcinoma; Methionine; AHCY; Exome sequencing; Genetic
Alterations of retinol-binding protein 4 species in patients with different stages of chronic kidney disease and their relation to lipid parameters
Keywords: ابدی; CKD; chronic kidney disease; eGFR; estimated glomerular filtration rate; ESRF; end-stage renal failure; MALDI-TOF-MS; matrix-assisted laser desorption ionization-time of flight-mass spectrometry; RBP4; retinol-binding protein 4; ROH; retinol; TTR; transty
The roles of cellular reactive oxygen species, oxidative stress and antioxidants in pregnancy outcomes
Keywords: ابدی; ROS; reactive oxygen species; O2; molecular oxygen; 1O2; singlet oxygen; O2â; superoxide anion; H2O2; hydrogen peroxide; H2O; water; OH; hydroxyl radical; ONOOâ; peroxynitrite; NO; nitric oxide; NOS; nitric oxide synthase; ROOH; peroxy radical; ROH; a