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(1 - 16 of 16)
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
A catalog of genetic loci associated with kidney function from analyses of a million individuals
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
alpha IIb beta 3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
Single Nucleotide Variants in the Protein C Pathway and Mortality in Dialysis Patients
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts
Seventy-five genetic loci influencing the human red blood cell
THE TRANSCRIPTION FACTOR MEIS1 REGULATES MEGAKARYOCYTE-ERYTHROCYTE FATE BY INDUCING FOG1 EXPRESSION
Thrombocytopenia with Absent Radii (TAR) syndrome is cause by compound inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
New gene functions in megakaryopoiesis and platelet formation
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Hundreds of variants clustered in genomic loci and biological pathways affect human height