4 Result(s)
within
Mads Bak
Science, Humanities and Social Sciences, multidisciplinary
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Article
Open AccessIdentification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MT...
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Article
Open AccessEnrichment of megabase-sized DNA molecules for single-molecule optical map** and next-generation sequencing
Next-generation sequencing (NGS) has caused a revolution, yet left a gap: long-range genetic information from native, non-amplified DNA fragments is unavailable. It might be obtained by optical map** of mega...
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Article
JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells
Polycomb proteins have a key role in regulating the expression of genes essential for development, differentiation and maintenance of cell fates. Here, Polycomb repressive complex 2 (PRC2) is shown to form a c...
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Article
Open AccessAncient human genome sequence of an extinct Palaeo-Eskimo
We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Seq...
