Christian Gilissen
Universitair Medisch Centrum Sint Radboud
110 papers found
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Novel bioinformatic developments for exome sequencing
Download from doi.orgImmunologic defects in severe mucocutaneous HSV-2 infections : Response to IFN-γ therapy
UploadNovel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Download from www.nature.comIdentification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility
Download from doi.orgPanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Download from www.nature.comEPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Download from doi.orgApoptosis-Related Gene Expression Profiling in Hematopoietic Cell Fractions of MDS Patients
Download from doi.orgGenetic studies in intellectual disability and related disorders
Download from www.nature.comDe novo mutations in PLXND1 and REV3L cause Mobius syndrome
Download from www.nature.comA recent bottleneck of Y chromosome diversity coincides with a global change in culture
Download from doi.orgSyndromic X-linked intellectual disability segregating with a missense variant in RLIM
Download from www.nature.comThyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)
UploadVariants inCUL4Bare Associated with Cerebral Malformations
Download from www.researchgate.netExome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability
Download from doi.orgCord Blood Mesenchymal Stem Cells Suppress DC-T Cell Proliferation via Prostaglandin B2
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