Concepedia

Rosa Isela Ortiz De Luna

RI

Statistics

Publications

8

Citations

1.6K

H-Index

8

Active since

1994

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

National Institutes of Health

National Human Genome Research Institute

Hospital Infantil de México Federico Gómez

Rosa Isela Ortiz De Luna is an author at Johns Hopkins University specializing in molecular genetics, genetics, and life sciences.

Publications per year

1994–1997

8

Publications

8

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 656 citations

, , +6

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 483 citations

, , +7

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

M R Johnson, M H Polymeropoulos, Hans L. Vos et al. · Genome Research · 1996 · 131 citations · Full text

, , +17

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Mihael H. Polymeropoulos, Susan Ide, Michael Wright et al. · Genomics · 1996 · 118 citations · Full text

, , +17

Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

Clalr A. Francomano, Rosa Isela Ortiz De Luna, Timothy Hefferon et al. · Human Molecular Genetics · 1994 · 72 citations

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