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: Complement Inhibition as a Therapy for Secondary 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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