M W Kilpatrick

Acheiropodia Is Caused by a Genomic Deletion in C7orf2, the Human Orthologue of the Lmbr1 Gene

Peter Ianakiev, Marijke J. van Baren, Mark J. Daly et al. · The American Journal of Human Genetics · 2001 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.

S. J. Vickers, M. Dahlitz, C Hardy et al. · Journal of Medical Genetics · 1994 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Katariina Kainulainen, B Steinmann, F Collins et al. · PubMed · 1991 · 52 citations

Life Sciences, Genetics, Molecular Genetics +15

An exclusion map of Marfan syndrome.

Susan H. Blanton, M. Sarfarazi, Hans Eiberg et al. · Journal of Medical Genetics · 1990 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.

T. Webb, D. J. Clarke, C Hardy et al. · Journal of Medical Genetics · 1995 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14