/manager/Index ${session.getAttribute("locale")} 5 AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma /manager/Repository/uon:14360 Wed 11 Apr 2018 17:15:26 AEST ]]> Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia /manager/Repository/uon:19379 Wed 11 Apr 2018 14:19:24 AEST ]]> Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort /manager/Repository/uon:29133 Wed 11 Apr 2018 10:09:29 AEST ]]> Hereditary haemochromatosis: to screen or not to screen? (editorial) /manager/Repository/uon:415 Thu 25 Jul 2013 09:10:05 AEST ]]> Planning the Human Variome Project: the Spain report /manager/Repository/uon:8177 Sat 24 Mar 2018 08:36:15 AEDT ]]> Directional sensing of a phorbol ester gradient requires CD44 and is regulated by CD44 phosphorylation /manager/Repository/uon:1017 Sat 24 Mar 2018 08:29:47 AEDT ]]> Phenotype-genotype correlations in a series of Wolfram syndrome families /manager/Repository/uon:1443 Sat 24 Mar 2018 08:28:07 AEDT ]]> Paternal obesity, interventions, and mechanistic pathways to impaired health in offspring /manager/Repository/uon:20202 Sat 24 Mar 2018 08:06:49 AEDT ]]> Probing glycine receptor stoichiometry in superficial dorsal horn neurones using the spasmodic mouse /manager/Repository/uon:17904 Sat 24 Mar 2018 07:56:40 AEDT ]]> Switching strategies to mitigate HIV mutation /manager/Repository/uon:19118 Sat 24 Mar 2018 07:55:52 AEDT ]]> Variable phenotypic expression in HNPCC and the search for modifier genes /manager/Repository/uon:5211 Sat 24 Mar 2018 07:47:45 AEDT ]]> Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin /manager/Repository/uon:5341 Sat 24 Mar 2018 07:45:56 AEDT ]]> A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease /manager/Repository/uon:4785 Sat 24 Mar 2018 07:20:44 AEDT ]]> A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A /manager/Repository/uon:24614 T, p.Q301*). The mutation segregated with the disease in the family and was not observed in over 100 000 control X chromosomes. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals. Conclusions: The association of RNF113A mutation with non-photosensitive TTD identifies a new locus for these disorders on the X chromosome. The extended phenotype within this family includes panhypopituitarism, cutis marmorata and congenital short oesophagus.]]> Sat 24 Mar 2018 07:11:55 AEDT ]]> RIP1 protects melanoma cells from apoptosis induced by BRAF/MEK inhibitors /manager/Repository/uon:36768 Fri 03 Jul 2020 14:41:43 AEST ]]>