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Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing..
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Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities..
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The use of droplet digital PCR and high resolution melt for detection of low level mosaicism.
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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders..
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A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy..
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