Zobrazeno 1 - 10
of 597
pro vyhledávání: '"D.L. Rimoin"'
Autor:
John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 45:538-538
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b80831591b08b3f2fbf4ab30b7a3525
https://doi.org/10.1002/ajmg.1320450431
https://doi.org/10.1002/ajmg.1320450431
Autor:
B Ponder
Publikováno v:
Trends in Genetics. 7:236
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::057ed11fcd0f3e4d69c954a81c17ee6d
https://doi.org/10.1016/0168-9525(91)90145-g
https://doi.org/10.1016/0168-9525(91)90145-g
Autor:
M.D. Briggs, S.M.G. Hoffman, L.M. King, A.S. Olsen, H. Mohrenweiser, J.G. Leroy, G.R. Mortier, D.L. Rimoin, R.S. Lachman, E.S. Gaines, J.A. Cekleniak, R.G. Knowlton, D.H. Cohn
Publikováno v:
Nature Genetics. 10:330-336
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e772e649fc84f6b9aa14e7ed164f2c1b
https://doi.org/10.1038/ng0795-330
https://doi.org/10.1038/ng0795-330
Publikováno v:
Pathology and Immunopathology Research. 7:139-145
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61047e1984bd789d3ab20b4ac2b2df26
https://doi.org/10.1159/000157109
https://doi.org/10.1159/000157109