Author/Creator: Bacchelli, C - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Bacchelli, C

1. 2.4 Whole exome sequencing of growth restricted offspring identifies gene variants implicated in maturity onset diabetes of the young. (9th June 2014)

Authors:: Hillman, SL; Smart, MC; Bacchelli, C; Ocaka, L; Williams, DJ
Journal:: Archives of disease in childhood
Issue:: Volume 99:Supplement 1(2014)
Page Start:: A2
Record Type:: Journal Article
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2. A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. Issue 6 (1st June 2003)

Authors:: Morgan, N V; Bacchelli, C; Gissen, P; Morton, J; Ferrero, G B; Silengo, M; Labrune, P; Casteels, I; Hall, C; Cox, P; Kelly, D A; Trembath, R C; Scambler, P J; Maher, E R; Goodman, F R; Johnson, C A
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 6(2003)
Page Start:: 431
Record Type:: Journal Article
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3. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. Issue 11 (1st November 2002)

Authors:: Debeer, P; Bacchelli, C; Scambler, P J; De Smet, L; Fryns, J-P; Goodman, F R
Journal:: Journal of medical genetics
Issue:: Volume 39:Issue 11(2002)
Page Start:: 852
Record Type:: Journal Article
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