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Suppression of the Arabidopsis cinnamoyl-CoA reductase 1-6 intronic T-DNA mutation by epigenetic modification
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Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
- Journal Article
- A1
- open access
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
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Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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- Journal Article
- A1
- open access
Loss of DPP6 in neurodegenerative dementia : a genetic player in the dysfunction of neuronal excitability
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Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
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- Journal Article
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- open access
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro