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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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- Journal Article
- A1
- open access
A qPCR assay to detect and quantify Shiga toxin-producing E. coli (STEC) in cattle and on farms : a potential predictive tool for STEC culture-positive farms
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Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a Northern Swedish population
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- Journal Article
- A1
- open access
Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
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Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region