檢索結果 - David O. Sillence
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1
Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function 由 Kin Ming Kwan, Michael K.M. Pang, Sheila X. Zhou, Soot Keng Cowan, Richard Yuen Chong Kong, T Pfordte, Bjørn R. Olsen, David O. Sillence, Patrick Tam, Kathryn S.E. Cheah
出版 1997Artigo -
2
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid 由 Matthew Ho, Kwok Yeung Tsang, Rebecca Lo, Miki Susic, Outi Mäkitie, Tori W.Y. Chan, Vivian Ng, David O. Sillence, Ray Boot-Handford, Gary Gibson, Kmc Cheung, William G. Cole, Kathryn S.E. Cheah, Danny Chan
出版 2007Artigo -
3
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype 由 Emma M. Wade, Zandra A. Jenkins, Philip B. Daniel, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Christa M. de Geus, Hans‐Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C. M. Hennekam, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, David O. Sillence, Andrea Superti‐Furga, Hermine E. Veenstra‐Knol, Dagmar Wieczorek, Louise C. Wilson, David Markie, Stephen P. Robertson
出版 2017Artigo
相關主題
Biology
Gene
Genetics
Phenotype
Anatomy
Cartilage
Cell biology
Internal medicine
Medicine
Missense mutation
Mutant
Mutation
Cell
Chondrocyte
Cohort
Cytoskeleton
Dysplasia
Endochondral ossification
Endocrinology
Endoplasmic reticulum
Extracellular matrix
FLNA
Filamin
Haploinsufficiency
Kinase
MAP kinase kinase kinase
MAP3K7
Molecular biology
Nonsense mutation
Ossification