Background Next-generation sequencing of cancer predisposition genes is routinely used in hereditary cancer diagnostics.
Correspondence to Dr Qing Liu, Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China; drliuqing{at}126.com; Dr Mengyang Wang; ...
Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first ...
Correspondence to Dr Satomi Mitsuhashi, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo ...
16 Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada 17 McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada 18 Children's Hospital at London ...
aServicio de Genética, Fundación Jimenez-Diaz, Av Reyes Catolicos 2, Madrid 28040, Spain, bDepartment of Cellular Biology, Universidad Complutense, Madrid, Spain If you wish to reuse any or all of ...
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan Background: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2).
Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...
Background We aimed to analyse the efficacy and added value of a targeted Israeli expanded carrier screening panel (IL-ECSP), beyond the first-tier test covered by the Israeli Ministry of Health (IMOH ...
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised ...
1 Department of Hematology and Oncology, University Hospital Mannheim, Mannheim, Germany 2 Institute of Transfusion Medicine and Immunology, Medical Faculty Mannheim, University of Heidelberg, German ...
Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...
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