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Epilepsia|June 17, 2023
Individuals with chronic epilepsy have elevated P-wave heterogeneity comparable to patients with atrial fibrillationGuilherme L Fialho, Trudy D Pang, Wan Yee Kong, et al.Human Molecular Genetics|April 20, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma casesBryndis Yngvadottir, Avgi Andreou, Laia Bassaganyas, et al.American Journal of Human Genetics|April 27, 2005
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndromeLaura S Schmidt, Michael L Nickerson, Michelle B Warren, et al.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|April 13, 2021
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysisF Mone, R Y Eberhardt, M E Hurles, et al.Brain : a Journal of Neurology|September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian, Esther Meyer, Grace Vassallo, et al.Journal of the National Cancer Institute|March 2, 2006
PMS2 mutations in childhood cancerMichel De Vos, Bruce E Hayward, Ruth Charlton, et al.Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.EJNMMI Research|January 14, 2021
The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST)Luigi Aloj, Olivier Giger, Iosif A Mendichovszky, et al.Cancer Genetics and Cytogenetics|December 8, 2009
The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancerRoland P Kuiper, Lilian Vreede, Ramprasath Venkatachalam, et al.American Journal of Human Genetics|October 24, 2003
Protein-truncating mutations in ASPM cause variable reduction in brain sizeJacquelyn Bond, Sheila Scott, Daniel J Hampshire, et al.Pageof 63