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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
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- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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- Journal Article
- A1
- open access
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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- Conference Paper
- C3
- open access
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
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Structural variants disrupt a critical regulatory region downstream of FOXG1
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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- Journal Article
- A1
- open access
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder