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Increased TMEM106B levels lead to lysosomal dysfunction which affects synaptic signaling and neuronal health
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Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
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Scywalker : scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing
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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 -
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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