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PreviewIssue DateTitleAuthor(s)
2014Trichomonas vaginalis as a cause of perinatal morbidity: a systematic review and meta-analysisSilver, B.; Guy, R.; Kaldor, J.; Jamil, M.; Rumbold, A.
2011TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesAndreucci, E.; Aftimos, S.; Alcausin, M.; Haan, E.; Hunter, W.; Kannu, P.; Kerr, B.; McGillivray, G.; McKinlay Gardner, R.; Patricelli, M.; Sillence, D.; Thompson, E.; Zacharin, M.; Zankl, A.; Lamande, S.; Savarirayan, R.
2001TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinomaRae, F.; Hooper, J.; Eyre, H.; Sutherland, G.; Nicol, D.; Clements, J.
2014Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingBuchanan, D.; Tan, Y.; Walsh, M.; Clendenning, M.; Metcalf, A.; Ferguson, K.; Arnold, S.; Thompson, B.; Lose, F.; Parsons, M.; Walters, R.; Pearson, S.; Cummings, M.; Oehler, M.; Blomfield, P.; Quinn, M.; Kirk, J.; Stewart, C.; Obermair, A.; Young, J.; et al.
2002Tumour Suppressor GeneCallen, D.; Whitmore, S.; Kremmidiotis, G.; Kochetkova, M.; Crawford, J.; Griffith Hack; Bionomics Ltd
2002Tumour Suppressor Gene Identified on Chromosome 18Callen, D.; Whitmore, S.; Kremmidiotis, G.; Kochetkova, M.; Crawford, J.; Griffith Hack; Bionomics Limited
2016Twelve tips for structuring student placements to achieve interprofessional learning outcomesNisbet, G.; O'Keefe, M.F.; Henderson, A.
2005Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.
2004Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIHermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
2003Two further cases of Ohdo syndrome delineate the phenotypic variability of the conditionWhite, S.; Ades, L.; Amor, D.; Liebelt, J.; Bankier, A.; Baker, E.; Wilson, M.; Savarirayan, R.
1998Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypesCrawley, A.; Yogalingam, G.; Muller, V.; Hopwood, J.
1996Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeIsbrandt, D.; Hopwood, J.; von Figura, K.; Peters, C.
1999Two novel mucin genes down-regulated in colorectal cancer identified by differential displayWilliams, S.; McGuckin, M.; Gotley, D.; Eyre, H.; Sutherland, G.; Antalis, T.
1995Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinBrooks, D.; Robertson, D.; Bindloss, C.; Litjens, T.; Anson, D.; Peters, C.; Morris, C.; Hopwood, J.
1999Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1Villard, L.; Briault, S.; Lossi, A.M.; Paringaux, C.; Belougne, J.; Colleaux, L.; Pincus, D.; Woollatt, E.; Lespinasse, J.; Munnich, A.; Moraine, C.; Fontes, M.; Gecz, J.
1998Two unusual cases of megacolonsChacko, J.; Sparnon, A.; Little, K.
1998Two-dimensional mapping and microsequencing of lysosomal proteins from human placentaChataway, T.; Whittle, A.; Lewis, M.; Bindloss, C.; Davey, R.; Moritz, R.; Simpson, R.; Hopwood, J.; Meikle, P.
2016Type 1 and Type 2 diabetes preconception and in pregnancy: health impacts, influence of obesity and lifestyle, and principles of managementAbell, S.K.; Nankervis, A.; Khan, K.S.; Teede, H.J.
2017Type 1 diabetes: a disease of developmental originsPhillips, J.; Couper, J.; Penno, M.; Harrison, L.
1996Type X collagen is colocalized with a proteoglycan epitope to form distinct morphological structures in bovine growth cartilageGibson, G.; Lin, D.; Francki, F.; Caterson, B.; Foster, B.