Immunotherapy has emerged as one of the most promising therapeutic strategies in cancer. The clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein 9 (CRISPR-Cas9) system ...
2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...
McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and ...
Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah—Hebrew University Medical Center, Jerusalem, Israel Correspondence to Professor Abraham Zlotogorski, ...
Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...
Methods We analyse the molecular mechanisms underlying the FIX deficiency through in silico analysis and reproducing the c.459G>A (Val107Val) mutation in stable cell lines. Conformation and ...
Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey
Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men and ...
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