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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. Neuromuscular disorders : NMD. 2014;24:660-5. doi:10.1016/j.nmd.2014.04.004.
Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta. 2013;421:184-90. doi:10.1016/j.cca.2013.03.011.
Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome: Transcriptional profiling of acute coronary syndrome. Clinica chimica acta; international journal of clinical chemistry. 2013. doi:10.1016/j.cca.2013.03.011.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.
Nivolumab and sunitinib combination in advanced soft tissue sarcomas: a multicenter, single-arm, phase Ib/II trial. J Immunother Cancer. 2020;8(2). doi:10.1136/jitc-2020-001561.
A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.