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Adipose Tissue Ceramides Reduces Endothelium-Dependent Vasorelaxation, Amplifies Vascular Oxidative Stress & Induces Systemic Inflammation Ultimately Leading To Death In Coronary Artery Disease
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Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
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Quantifying the contribution of recessive coding variation to developmental disorders.
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Adipose Tissue-Derived Wnt5a as a Novel Link Between Obesity and Vascular Disease
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Akoumianakis I. et al, (2018), CIRCULATION, 138
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.
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