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Results 41-49 of 49 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
1998Localisation of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity.Kremmidiotis, G.; Baker, E.; Crawford, J.; Eyre, H.; Nahmias, J.; Callen, D.
2017Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemiaBanjar, H.; Ranasinghe, D.; Brown, F.; Adelson, D.; Kroger, T.; Leclercq, T.; White, D.; Hughes, T.; Chaudhri, N.; Speletas, M.
1998ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, & is shown to be expressed in primitive hematopoietic precursors.Kuss, B.; O'Neill, G.; Eyre, H.; Doggett, N.; Callen, D.; Davey, R.
1998The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers Syndrome.Kortschak, R.; Reimann, H.; Zimmer, M.; Eyre, H.; Saint, R.; Jenne, D.
2018Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismVan Eyk, C.; Corbett, M.; Gardner, A.; Van Bon, B.; Broadbent, J.; Harper, K.; MacLennan, A.; Gecz, J.
1997Chromosomal localisation of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor familySomers, G.; Hammet, F.; Woollatt, E.; Richards, R.; Southey, M.; Venter, D.
2022A custom hybridisation enrichment forensic intelligence panel to infer biogeographic ancestry, hair and eye colour, and Y chromosome lineageBardan, F.; Higgins, D.; Austin, J.J.