Items where authors include "Shore, RC"

Article

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Levin, AV et al. (9 more authors) (2016) Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European Journal of Human Genetics, 24 (11). pp. 1565-1571. ISSN 1018-4813

Parry, DA, Smith, CEL orcid.org/0000-0001-8320-5105, El-Sayed, W et al. (17 more authors) (2016) Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. American Journal of Human Genetics, 99 (4). pp. 984-990. ISSN 0002-9297

Poulter, JA, Brookes, SJ, Shore, RC et al. (5 more authors) (2014) A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Human Molecular Genetics, 23 (8). 2189 - 2197. ISSN 0964-6906

Poulter, JA, El-Sayed, W, Shore, RC et al. (3 more authors) (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 22. 132 - 135. ISSN 1018-4813

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297