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The British Journal of General Practice : the Journal of the Royal College of General Practitioners|April 4, 2009
'Over-the-counter' genetic testing: what does it really mean for primary care?Imran Rafi, Nadeem Qureshi, Anneke Lucassen, et al.Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.American Journal of Medical Genetics. Part A|April 23, 2003
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)Diana Baralle, Chris Mattocks, Kamini Kalidas, et al.American Journal of Medical Genetics. Part A|January 12, 2020
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathyFarah Kanani, Hannah Titheradge, Nicola Cooper, et al.Molecular Genetics & Genomic Medicine|July 22, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disabilityWayne W K Lam, John J Millichap, Dinesh C Soares, et al.Nephron|August 10, 2016
Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future StudyJ Chris Kingswood, John J Bissler, Klemens Budde, et al.American Journal of Medical Genetics. Part A|April 8, 2015
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 geneNatasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, et al.Nature Communications|September 28, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunctionAvinaash V Maharaj, Miho Ishida, Anna Rybak, et al.Human Mutation|August 21, 2012
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.Ebiomedicine|May 13, 2026
Prospective use of genomics in the evaluation of sudden cardiac death: results from a national health service population pathwayCian Wade, Richard Sandford, Frances Elmslie, et al.Pageof 6