Concepedia

Iain McIntosh

IM

4

Publications

413

Citations

4

H-Index

1995

Active since

Affiliations

Johns Hopkins University(Current)

National Human Genome Research Institute

National Institutes of Health

Johns Hopkins Medicine

Iain McIntosh is an author at Johns Hopkins University specializing in medicine, genetics, and glaucoma.

Top concepts

Publications per year

1995–1999

4

Publications

4

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Iain McIntosh, Sandra D. Dreyer, Mark V. Clough et al. · The American Journal of Human Genetics · 1998 · 171 citations · Full text

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

Patricia L. Tavormina, Gary A. Bellus, Melanie K. Webster et al. · The American Journal of Human Genetics · 1999 · 163 citations · Full text

Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

Iain McIntosh, Margaret H. Abbott, Clair A. Francomano · Human Mutation · 1995 · 55 citations

, , +11

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.

Frances A. Farley, Paul R. Lichter, Catherine A. Downs et al. · Journal of Pediatric Orthopaedics · 1999 · 24 citations

, , +16

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