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Genomic view of the origins of cell-mediated immunity
Genomic view of the origins of cell-mediated immunity
NKp30 is an activating natural killer cell receptor (NKR) with a single-exon variable (VJ)–type immunoglobulin super...
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review
The European Reference Network for craniofacial anomalies and ear, nose and throat disorders (ERN-CRANIO) aims to improve ...
Health-related quality of life in a european sample of adults with early-treated classical PKU
Health-related quality of life in a european sample of adults with early-treated classical PKU
Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findi...
Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders
Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders
To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lo...
Innovative thinking of clinical investigation for rare disease drug development
Innovative thinking of clinical investigation for rare disease drug development
For the development of a test treatment or drug product, it is necessary to conduct composite hypothesis testing to test f...
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
Rearrangements of 22q11.2 region, most often deletions and duplications, are responsible for multipl
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human
Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfu...
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer
Long-read sequencing reveals the landscape of aberrant alternative splicing and novel therapeutic target in colorectal cancer
Alternative splicing complexity plays a vital role in carcinogenesis and cancer progression. Improved understanding of nov...
Pioneer factors — key regulators of chromatin and gene expression
Pioneer factors are a group of transcription factors with important roles in gene regulation during development. Their uni...
A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N=221,127)
A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N=221,127)
medRxiv - The Preprint Server for Health Sciences
GAUSS: A comprehensive R package for accurate estimation of linkage disequilibrium for variants, Gaussian imputation and TWAS analysis of cosmopolitan cohorts
GAUSS: A comprehensive R package for accurate estimation of linkage disequilibrium for variants, Gaussian imputation and TWAS analysis of cosmopolitan cohorts
medRxiv - The Preprint Server for Health Sciences
Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study.
Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study.
medRxiv - The Preprint Server for Health Sciences
Genetic selection for reduced health treatment costs in Holstein cows: implications from a long-term study
Genetic selection for reduced health treatment costs in Holstein cows: implications from a long-term study
The objective of this study was to estimate genetic parameters of health treatment cost of Holstein cows from producer-rec...
Next-generation sequencing improves precision medicine in hearing loss
Next-generation sequencing improves precision medicine in hearing loss
Background: An early etiological diagnosis of hearing loss positively impacts children’s quality of life including languag...
A novel artificial intelligence approach to detect the breast cancer using KNNet technique with EPM gene profiling
A novel artificial intelligence approach to detect the breast cancer using KNNet technique with EPM gene profiling
Women’s most frequent type of cancer is breast cancer, second only to lung cancer. This paper summarizes changes in ...
De novo transcriptome sequencing of drought tolerance–associated genes in little millet (Panicum sumatrense L.)
De novo transcriptome sequencing of drought tolerance–associated genes in little millet (Panicum sumatrense L.)
The genome size of the little millet Panicum sumatrense is unknown, although its genome is fairly diploid (2n =̴...
Double-stranded RNA mediated knockdown of sucrase gene induced mortality and reduced offspring production in Aphis gossypii
Double-stranded RNA mediated knockdown of sucrase gene induced mortality and reduced offspring production in Aphis gossypii
The importance of gut sucrase in maintaining osmotic equilibrium and utilizing phloem contents as a carbon source has been...
Correction to: Genome‑wide association studies: an intuitive solution for SNP identification and gene mapping in trees
Correction to: Genome‑wide association studies: an intuitive solution for SNP identification and gene mapping in trees
Department of Forest Biology and Tree Improvement, Kerala Agricultural University, Thrissur, Kerala, 680 656, IndiaM. N. A...
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
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Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
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Genotype and sleep independently predict mental health in Rett syndrome: an observational study
Genotype and sleep independently predict mental health in Rett syndrome: an observational study
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Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
IntroductionLimb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders w...
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma
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Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer
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Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSWe show for the first time that biallelic loss of function variants...
Germline pathogenic SMARCA4 variants in neuroblastoma
Germline pathogenic SMARCA4 variants in neuroblastoma
Heterozygous germline pathogenic variants (GPVs) in SMARCA4, the gene encoding the ATP-dependent chromatin remodelling pro...
ARF1-related disorder: phenotypic and molecular spectrum
ARF1-related disorder: phenotypic and molecular spectrum
WHAT IS ALREADY KNOWN ON THIS TOPIC ARF1-related disorder has been previously described as a syndromic intellectual disabi...
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracel...
Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
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