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PreviewIssue DateTitleAuthor(s)
2020Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansionCarroll, R.; Shaw, M.; Arvio, M.; Gardner, A.; Kumar, R.; Hodgson, B.; Heron, S.; McKenzie, F.; Järvelä, I.; Gecz, J.
2010The origin, early history and diversification of Lepidosauromorph reptilesEvans, S.E.; Jones, M.E.; Bandyopadhyay, S.
2019GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in CameroonTingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
2021Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsPham, D.H.; Pitman, M.R.; Sharma, R.; Jolly, L.; Schulz, R.; Gardner, A.; de Nys, R.; Heron, S.E.; Corbett, M.A.; Kothur, K.; Gill, D.; Rajagopalan, S.; Kolc, K.; Halliday, B.J.; Robertson, S.P.; Regan, B.M.; Kirsch, H.E.; Berkovic, S.F.; Scheffer, I.E.; Pitson, S.M.; et al.
1996A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegiaDonnelly, A.; Colley, A.; Crimmins, D.; Mulley, J.
2017CRLF2-positive B-cell acute lymphoblastic leukemia in adult patients : a single-institution experienceKonoplev, S.; Lu, X.; Konopleva, M.; Jain, N.; Ouyang, J.; Goswami, M.; Roberts, K.; Valentine, M.; Mullighan, C.; Bueso-Ramos, C.; Zweidler-McKay, P.; Jorgensen, J.; Wang, S.
1996Regional localisation of two non-specific X-linked mental retardation genes (MRX 30 and MRX 31)Donnelly, A.; Partington, M.; Ryan, A.; Mulley, J.
2019A genome-wide association study of mitochondrial DNA copy number in two population-based cohortsGuyatt, A.L.; Brennan, R.R.; Burrows, K.; Guthrie, P.A.I.; Ascione, R.; Ring, S.M.; Gaunt, T.R.; Pyle, A.; Cordell, H.J.; Lawlor, D.A.; Chinnery, P.F.; Hudson, G.; Rodriguez, S.
2021The inflated significance of neutral genetic diversity in conservation geneticsTeixeira, J.C.; Huber, C.D.
2019Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphologyHan, X.; Qassim, A.; An, J.; Marshall, H.; Zhou, T.; Ong, J.-S.; Hassall, M.M.; Hysi, P.G.; Foster, P.J.; Khaw, P.T.; Mackey, D.A.; Gharahkhani, P.; Khawaja, A.P.; Hewitt, A.W.; Craig, J.E.; MacGregor, S.

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