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A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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- journalArticle
- A1
- open access
COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression
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AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model
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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
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The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways
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- journalArticle
- A1
- open access
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
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Integrative pathway genomics of lung function and airflow obstruction
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An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model