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Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR
medRxiv - The Preprint Server for Health Sciences
Genetics of cardiovascular outcomes in individuals with chronic kidney disease: the Chronic Renal Insufficiency Cohort (CRIC) study
Genetics of cardiovascular outcomes in individuals with chronic kidney disease: the Chronic Renal Insufficiency Cohort (CRIC) study
medRxiv - The Preprint Server for Health Sciences
Detecting Monogenic Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals
Detecting Monogenic Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals
medRxiv - The Preprint Server for Health Sciences
Common Genetic Variants Modify Disease Risk and Clinical Presentation in Monogenic Diabetes
Common Genetic Variants Modify Disease Risk and Clinical Presentation in Monogenic Diabetes
medRxiv - The Preprint Server for Health Sciences
A multistage, multitask transformer-based framework for multi-disease diagnosis and prediction using personal proteomes
A multistage, multitask transformer-based framework for multi-disease diagnosis and prediction using personal proteomes
medRxiv - The Preprint Server for Health Sciences
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
medRxiv - The Preprint Server for Health Sciences
Genomics-Informed Drug Repurposing Strategy Identifies Novel Therapeutic Targets for Metabolic Dysfunction-Associated Steatotic Liver Disease.
Genomics-Informed Drug Repurposing Strategy Identifies Novel Therapeutic Targets for Metabolic Dysfunction-Associated Steatotic Liver Disease.
medRxiv - The Preprint Server for Health Sciences
Genome-Wide Analysis Reveals a Role of Non-coding 3'untranslated Region Variants Affecting Cleavage and Polyadenylation in Undiagnosed Rare Disorders
Genome-Wide Analysis Reveals a Role of Non-coding 3'untranslated Region Variants Affecting Cleavage and Polyadenylation in Undiagnosed Rare Disorders
medRxiv - The Preprint Server for Health Sciences
Genome-wide transcriptome analysis reveals sex-specific biological differences in the early phase of an acute myocardial infarction.
Genome-wide transcriptome analysis reveals sex-specific biological differences in the early phase of an acute myocardial infarction.
medRxiv - The Preprint Server for Health Sciences
A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases
A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases
medRxiv - The Preprint Server for Health Sciences
Type 2 diabetes polygenic risk score demonstrates context-dependent effects and associations with type 2 diabetes-related risk factors and complications across diverse populations
Type 2 diabetes polygenic risk score demonstrates context-dependent effects and associations with type 2 diabetes-related risk factors and complications across diverse populations
medRxiv - The Preprint Server for Health Sciences
Circulating cell-free DNA methylation profiles as noninvasive multiple sclerosis biomarkers: A proof-of-concept study
Circulating cell-free DNA methylation profiles as noninvasive multiple sclerosis biomarkers: A proof-of-concept study
medRxiv - The Preprint Server for Health Sciences
Prevalence and consequences of APC mosaicism in patients with colorectal adenomas
Prevalence and consequences of APC mosaicism in patients with colorectal adenomas
medRxiv - The Preprint Server for Health Sciences
Molecular genetic influences on attentional control and other executive processes and their links with psychopathology in the AFFECT study
Molecular genetic influences on attentional control and other executive processes and their links with psychopathology in the AFFECT study
medRxiv - The Preprint Server for Health Sciences
Cancer risks for MSH6 pathogenic variant carriers
Cancer risks for MSH6 pathogenic variant carriers
medRxiv - The Preprint Server for Health Sciences
Unbiased human genomic characterization of polyglutamine disorder genes to inform therapeutic strategies
Unbiased human genomic characterization of polyglutamine disorder genes to inform therapeutic strategies
medRxiv - The Preprint Server for Health Sciences
CFTR Gene Variant Detection in Moroccan Individuals via Nanopore Long-Read Sequencing
CFTR Gene Variant Detection in Moroccan Individuals via Nanopore Long-Read Sequencing
medRxiv - The Preprint Server for Health Sciences
Interstitial Cystitis: a phenotype and rare variant exome sequencing study
Interstitial Cystitis: a phenotype and rare variant exome sequencing study
medRxiv - The Preprint Server for Health Sciences
Estimation of the global burden of autosomal recessive rare inborn errors of metabolism
Estimation of the global burden of autosomal recessive rare inborn errors of metabolism
medRxiv - The Preprint Server for Health Sciences
Genetic Variants that Modulate Alzheimer's Disease Risk Deregulate Protein-Protein Correlations in the Gyrus Temporalis Medius
Genetic Variants that Modulate Alzheimer's Disease Risk Deregulate Protein-Protein Correlations in the Gyrus Temporalis Medius
medRxiv - The Preprint Server for Health Sciences
The relationship between shared and differentiating genetic liability for schizophrenia and bipolar disorder and cognition and educational attainment in the UK Biobank
The relationship between shared and differentiating genetic liability for schizophrenia and bipolar disorder and cognition and educational attainment in the UK Biobank
medRxiv - The Preprint Server for Health Sciences
Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome
Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome
medRxiv - The Preprint Server for Health Sciences
Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations.
Integration of functional genomics and statistical fine-mapping systematically characterizes adult-onset and childhood-onset asthma genetic associations.
medRxiv - The Preprint Server for Health Sciences
Nuclear regulatory disturbances precede and predict the development of Type-2 diabetes in Asian populations
Nuclear regulatory disturbances precede and predict the development of Type-2 diabetes in Asian populations
medRxiv - The Preprint Server for Health Sciences
Confirmatory insights into ELMOD3-associated autosomal dominant non-syndromic hearing loss
Confirmatory insights into ELMOD3-associated autosomal dominant non-syndromic hearing loss
medRxiv - The Preprint Server for Health Sciences
Putative breast cancer risk variants from populations of South Asian ancestry are under-represented in public variant classification databases
Putative breast cancer risk variants from populations of South Asian ancestry are under-represented in public variant classification databases
medRxiv - The Preprint Server for Health Sciences
3D phenotyping in a Colombian population reveals unique population and ontogenic facial patterns in genetic and rare disorders
3D phenotyping in a Colombian population reveals unique population and ontogenic facial patterns in genetic and rare disorders
medRxiv - The Preprint Server for Health Sciences
Identification of novel vertebral development factors through UK Biobank driven genetic and body imaging analysis reveals markers for back pain
Identification of novel vertebral development factors through UK Biobank driven genetic and body imaging analysis reveals markers for back pain
medRxiv - The Preprint Server for Health Sciences
Integrative Genome-Wide Association Studies of COVID-19 Susceptibility and Hospitalization Reveal Risk Loci for Long COVID
Integrative Genome-Wide Association Studies of COVID-19 Susceptibility and Hospitalization Reveal Risk Loci for Long COVID
medRxiv - The Preprint Server for Health Sciences
OMKar: optical map based automated karyotyping of genomes to identify constitutional abnormalities
OMKar: optical map based automated karyotyping of genomes to identify constitutional abnormalities
medRxiv - The Preprint Server for Health Sciences
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