Browsing by Author Wicking, Carol

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Issue DateTitleAuthor(s)Citation
2017Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumZankl, Andreas; Anderson, L; Brown, Matthew; Duncan, Emma; Leo, Paul; Marshall, M; McInerney-Leo, Aideen M; Wheeler, L; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum, American Journal of Medical Genetics, Part A, vol.173A, 6, 2017,pp 1698-1704
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10