Leiden University Scholarly Publications

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CRB1 is required for recycling by RAB11A+vesicles in human retinal organoids
Ldlr-/-.Leiden mice develop neurodegeneration, age-dependent astrogliosis and obesity-induced changes in microglia immunophenotype which are partly reversed by complement component 5 neutralizing antibody
Minocycline for sporadic and hereditary cerebral amyloid angiopathy (BATMAN)
Ankle-Foot-Orthosis "Hermes" compensates pathological ankle stiffness of chronic stroke
Tackling neuroinflammation after traumatic brain injury
Effect of NOTCH3 EGFr group, sex, and cardiovascular risk factors on CADASIL clinical and neuroimaging outcomes
Therapeutic Intervention with Anti-Complement Component 5 Antibody Does Not Reduce NASH but Does Attenuate Atherosclerosis and MIF Concentrations in Ldlr-/-.Leiden Mice
Development, characterization, and in vivo validation of a humanized C6 monoclonal antibody that inhibits the membrane attack complex
Safety and efficacy of C1-inhibitor in traumatic brain injury (CIAO@TBI)
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies
Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathy
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
Whole-exome sequencing identifies SLC52A1 and ZNF106 variants as novel genetic risk factors for (early) multiple-organ failure in acute pancreatitis
Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Postnatal brain growth patterns in pontocerebellar hypoplasia
A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H
A large-scale full GBA1 gene screening in Parkinson's disease in the Netherlands
Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2

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