William G. Cole

COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

Richard Wenstrup, Jane B. Florer, Marcia Willing et al. · The American Journal of Human Genetics · 2000 · 127 citations · Full text

Protein Function, Signal Transduction, Common Molecular Mechanism +9

Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 haplo‐insufficient Ehlers–Danlos syndrome

Richard Wenstrup, Jane B. Florer, William G. Cole et al. · Journal of Cellular Biochemistry · 2004 · 69 citations

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the <i>DTDST</i> gene: Double‐layer patella as a reliable sign

Outi Mäkitie, Ravi Savarirayan, Luisa Bonafé et al. · American Journal of Medical Genetics Part A · 2003 · 60 citations

Schmid type of metaphyseal chondrodysplasia and <i>COL10A1</i> mutations—findings in 10 patients

Outi Mäkitie, Miki Susic, Leanne M. Ward et al. · American Journal of Medical Genetics Part A · 2005 · 58 citations

Standardized problem list generation, utilizing the Mayo canonical vocabulary embedded within the Unified Medical Language System.

Peter L. Elkin, David N. Mohr, Mark S. Tuttle et al. · PubMed · 1997 · 48 citations · Full text