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Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
The Journal of Molecular Diagnostics : JMD|September 27, 2025
Analytical Validation of a Pan-Cancer Next-Generation Sequencing Assay for In-House Liquid Biopsy Testing: An International Multicenter StudyGaëlle Lescuyer, Alexandre Harlé, Hari Shankar Kumar, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.
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