George E. Tiller

Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Emil Kakkis, Joseph Muenzer, George E. Tiller et al. · New England Journal of Medicine · 2001 · 675 citations · Full text

Life Sciences, Biochemistry, Genetics +11

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Miikka Vikkula, Edwin C.M Madman, Vincent Chi Hang Lui et al. · Cell · 1995 · 409 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

Ági K. Gedeon, Alison Colley, Robyn V. Jamieson et al. · Nature Genetics · 1999 · 187 citations

Life Sciences, Genetics, Molecular Genetics +6

Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)

Man-Cong Zhang, Lan He, MariaGabriella Giro et al. · Journal of Biological Chemistry · 1999 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Andrew J. Griffith, Leslie K. Sprunger, D. Alexa Sirko-Osadsa et al. · The American Journal of Human Genetics · 1998 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11