SCI时时刷

search
+
Osteonecrosis in Gaucher Disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center
Osteonecrosis in Gaucher Disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center
medRxiv - The Preprint Server for Health Sciences
Mapping pQTLs of circulating inflammatory proteins identifies drivers of and novel therapeutic targets
Mapping pQTLs of circulating inflammatory proteins identifies drivers of and novel therapeutic targets
medRxiv - The Preprint Server for Health Sciences
A gene network implicated in the joint-muscle pain, brain fog, chronic fatigue, and bowel irregularity of Ehlers-Danlos and "long" COVID19 syndromes.
A gene network implicated in the joint-muscle pain, brain fog, chronic fatigue, and bowel irregularity of Ehlers-Danlos and "long" COVID19 syndromes.
medRxiv - The Preprint Server for Health Sciences
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project
A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project
medRxiv - The Preprint Server for Health Sciences
Rare genetic variants in SEC24D modify orofacial cleft phenotypes
Rare genetic variants in SEC24D modify orofacial cleft phenotypes
medRxiv - The Preprint Server for Health Sciences
Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort
Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort
medRxiv - The Preprint Server for Health Sciences
Genetic regulation of fetal hemoglobin across global populations
Genetic regulation of fetal hemoglobin across global populations
medRxiv - The Preprint Server for Health Sciences
MAPT allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinsons disease risk and age at onset.
MAPT allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinsons disease risk and age at onset.
medRxiv - The Preprint Server for Health Sciences
Multi-layered genetic approaches to identify approved drug targets
Multi-layered genetic approaches to identify approved drug targets
medRxiv - The Preprint Server for Health Sciences
MIMOSA: A resource consisting of improved methylome imputation models increases power to identify DNA methylation-phenotype associations
MIMOSA: A resource consisting of improved methylome imputation models increases power to identify DNA methylation-phenotype associations
medRxiv - The Preprint Server for Health Sciences
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance
medRxiv - The Preprint Server for Health Sciences
Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer
Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer
medRxiv - The Preprint Server for Health Sciences
Integration of DNA methylation datasets for individual prediction
Integration of DNA methylation datasets for individual prediction
medRxiv - The Preprint Server for Health Sciences
Depression: an adaptive disease?
Depression: an adaptive disease?
medRxiv - The Preprint Server for Health Sciences
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
medRxiv - The Preprint Server for Health Sciences
Mechanistic convergence of depression and suicidality on astrocyte fatty acid metabolism
Mechanistic convergence of depression and suicidality on astrocyte fatty acid metabolism
medRxiv - The Preprint Server for Health Sciences
High-throughput splicing assays identify known and novel WT1 exon 9 variants in nephrotic syndrome
High-throughput splicing assays identify known and novel WT1 exon 9 variants in nephrotic syndrome
medRxiv - The Preprint Server for Health Sciences
Integration of Mendelian randomisation and systems biology models to identify novel blood-based biomarkers for stroke
Integration of Mendelian randomisation and systems biology models to identify novel blood-based biomarkers for stroke
medRxiv - The Preprint Server for Health Sciences
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution
Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution
medRxiv - The Preprint Server for Health Sciences
An ultrasensitive method for detecting mutations from short and rare cell-free DNA
An ultrasensitive method for detecting mutations from short and rare cell-free DNA
medRxiv - The Preprint Server for Health Sciences
Association analyses of predicted loss-of-function variants prioritized 15 genes as blood pressure regulators
Association analyses of predicted loss-of-function variants prioritized 15 genes as blood pressure regulators
medRxiv - The Preprint Server for Health Sciences
Validity of European-centric derived cardiometabolic polygenic risk scores in multi-ancestry populations
Validity of European-centric derived cardiometabolic polygenic risk scores in multi-ancestry populations
medRxiv - The Preprint Server for Health Sciences
Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history
Transferability of European-derived cardiometabolic polygenic risk scores in the South Asians and their interplay with family history
medRxiv - The Preprint Server for Health Sciences
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
medRxiv - The Preprint Server for Health Sciences
A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
medRxiv - The Preprint Server for Health Sciences
Non-additive effects of schizophrenia risk genes reflect convergent downstream function
Non-additive effects of schizophrenia risk genes reflect convergent downstream function
medRxiv - The Preprint Server for Health Sciences
Identifying potential risk genes and pathways for neuropsychiatric and substance use disorders using intermediate molecular mediator information
Identifying potential risk genes and pathways for neuropsychiatric and substance use disorders using intermediate molecular mediator information
medRxiv - The Preprint Server for Health Sciences
RNA-seq analysis of skeletal muscle in motor neurone disease cases and controls
RNA-seq analysis of skeletal muscle in motor neurone disease cases and controls
medRxiv - The Preprint Server for Health Sciences
Genetic insights into the age-specific biological mechanisms governing human ovarian ageing
Genetic insights into the age-specific biological mechanisms governing human ovarian ageing
medRxiv - The Preprint Server for Health Sciences
The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings
The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings
medRxiv - The Preprint Server for Health Sciences
阅读更多
format_indent_increase