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A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma. Genes Chromosomes Cancer. 2005;42:260-8. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15609347.
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.
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.
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.
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 RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
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.
Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.
Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.
Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.
Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.