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Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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H3K27me3 erasers, novel targets in T-cell acute lymphoblastic leukaemia
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Identifying and validating DNA methylation biomarkers: the example of neuroblastoma
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LNCipedia: a database for annotated human lncRNA transcript sequences and structures
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miRNAs distinguish children with myelodysplastic syndrome from healthy donors
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Genome wide expression, mutation and methylation analysis validates three new mouse models for neuroblastoma targeting MYCN, ALK and LIN28B for pre-clinical studies
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa