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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations
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- Journal Article
- A1
- open access
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
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- Journal Article
- A1
- open access
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant
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Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families
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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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- Journal Article
- A1
- open access
Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture