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Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 7
While the life expectancy of the population has increased, Alzheimer’s disease (AD) has emerged as one of the greatest health problems of old age. AD is... 
Apolipoprotein E4 | Peptides | Cognitive ability | Homeostasis | Amino acids | Mass spectroscopy | Single-nucleotide polymorphism | Coexistence | Apolipoproteins | Acetylcholinesterase | Cholesterol | Life span | Apolipoprotein E | Coding | Alleles | Health risk assessment | Alzheimer's disease | Plaques
Journal Article
Italian journal of pediatrics, ISSN 1720-8424, 06/2019, Volume 45, Issue 1, pp. 72 - 72
Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently... 
CONTRIBUTOR | triallelic inheritance | ALLELES | VARIANTS | GENETICS | PHENOTYPE | PEDIATRICS | Bardet-Biedl syndrome | NGS | IDENTIFICATION | PROTEINS | Genetic diagnosis | Proteins | Genotype & phenotype | Phenotypes | Genes | Heredity | Mutation | Patients | Polygenic inheritance | Hypogonadism | Deoxyribonucleic acid--DNA | Genotypes | Hereditary diseases | Genetic diagnosis; triallelic inheritance
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 4059 - 13
The present study describes the genetic architecture of the isolated populations of Cilento, through the analysis of exome sequence data of 245 representative... 
FOUNDER POPULATION | GENOTYPE IMPUTATION | LOW-FREQUENCY | MULTIDISCIPLINARY SCIENCES | RARE VARIANT | GENOME-WIDE ASSOCIATION | IMPROVED IMPUTATION ACCURACY | Extracellular matrix | Genomes | Gene frequency | Population genetics | Alleles | Life Sciences | Populations and Evolution | Genetics | Applications | Statistics | Human genetics
Journal Article
by Wang, K and Wang, GY and Huang, SK and Luo, AQ and Jing, X and Li, G and Zhou, Y and Zhao, XH
BMC CANCER, ISSN 1471-2407, 05/2019, Volume 19, Issue 1, pp. 446 - 446
BackgroundTIMP-2 gene plays an important role in the development of breast cancer. The present study was conducted to evaluate whether TIMP-2 gene... 
MATRIX METALLOPROTEINASES | TIMP-2 | MMP-2 | ONCOLOGY | PROGNOSIS | SUSCEPTIBILITY | Case-control study | TISSUE INHIBITOR | RISK | Breast cancer | Gene polymorphism | EXPRESSION | Prevention | Women | Oncology, Experimental | Genes | Development and progression | Genetic aspects | Disease susceptibility | Research | Single nucleotide polymorphisms | Cancer | Analysis | Genetic polymorphisms | Risk factors
Journal Article
CLINICAL EPIGENETICS, ISSN 1868-7083, 02/2019, Volume 11, Issue 1, pp. 30 - 30
Journal Article
Scientific reports, ISSN 2045-2322, 05/2019, Volume 9, Issue 1, pp. 8067 - 9
The determination of null- or low-expressed HLA alleles is clinically relevant in both hematopoietic stem cell transplantation and solid organ transplantation.... 
CRISPR | Flow cytometry | Antibodies | Stem cell transplantation | Gene deletion | Hematopoietic stem cells | Hemopoiesis | Clonal deletion | Lymphocytes B | γ-Interferon | Alleles | Protein expression | Histocompatibility antigen HLA
Journal Article