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European Journal of Haematology|January 28, 2022
Impact of timing and precision of histopathological diagnosis on outcomes of patients with Burkitt lymphoma and high-grade B-cell lymphomaClaus Moritz Graef, Philipp Gödel, Philipp Falderbaum, et al.Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.Molecular Genetics & Genomic Medicine|September 5, 2019
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communicationStephanie Harris, Allison L Cirino, Christina W Carr, et al.American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.Pageof 2