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Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.Biorxiv : the Preprint Server for Biology|January 9, 2026
Anatomical White Matter Tracts Span the Cortical Hierarchy to Support Cognitive DiversityJoëlle Bagautdinova, Golia Shafiei, Audrey C Luo, et al.Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.Cancer Research|September 16, 2022
Transposon Mutagenesis Reveals RBMS3 Silencing as a Promoter of Malignant Progression of BRAFV600E-Driven Lung TumorigenesisAria Vaishnavi, Joseph Juan, Maebh Jacob, et al.Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association|July 15, 2004
Dietetic guidelines: diet in secondary prevention of cardiovascular disease (first update, June 2003)L Hooper, E Griffiths, B Abrahams, et al.Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.Biodata Mining|December 19, 2024
Comparing new tools of artificial intelligence to the authentic intelligence of our global health studentsShilpa R Thandla, Grace Q Armstrong, Adil Menon, et al.NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.Pageof 58