Zobrazeno 1 - 10
of 6 464
pro vyhledávání: '"heritable disorder"'
Autor:
Eyre, David R., Glimcher, Melvin J.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1972 Sep 01. 69(9), 2594-2598.
Externí odkaz:
https://www.jstor.org/stable/61824
Autor:
Bader, Hannah L.1, Ruhe, Alison L.2, Wang, Lauren W.1, Wong, Aaron K.3, Walsh, Kari F.2, Packer, Rebecca A.4, Mitelman, Jonathan5, Robertson, Kathryn R.2, O'Brien, Dennis P.6, Broman, Karl W.7, Shelton, G. Diane8, Apte, Suneel S.1, Neff, Mark W.9,10 mark.neff@vai.org
Publikováno v:
PLoS ONE. 2010, Vol. 5 Issue 9, p1-8. 8p.
Autor:
Saito, Yoshiaki, Saito, Kayoko, Hirano, Yukiko, Ikeya, Kiyoko, Suzuki, Haruko, Shishikura, Keiko, Manno, Sumie, Takakuwa, Yuichi, Nakagawa, Kiyoshi, Iwasa, Aiko, Fujikawa, Satoshi, Moriya, Makoto, Mizoguchi, Nobuyuki, Golden, Barbara E., Osawa, Makiko
Publikováno v:
In The Journal of Pediatrics February 2002 140(2):267-269
Autor:
O'Rahilly, S.1 so104@medschl.cam.ac.uk, Farooqi, I. S.1
Publikováno v:
International Journal of Obesity. Dec2008 Supplement 7, Vol. 32, pS55-S61. 7p.
Autor:
Meschede, Dieter
Publikováno v:
Reproductive Technologies. Jul2001, Vol. 10 Issue 4, p189. 8p. 2 Diagrams, 1 Graph.
Akademický článek
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Autor:
Hannah L Bader, Alison L Ruhe, Lauren W Wang, Aaron K Wong, Kari F Walsh, Rebecca A Packer, Jonathan Mitelman, Kathryn R Robertson, Dennis P O'Brien, Karl W Broman, G Diane Shelton, Suneel S Apte, Mark W Neff
Publikováno v:
PLoS ONE, Vol 5, Iss 9 (2010)
Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by g
Externí odkaz:
https://doaj.org/article/418807d82d704dbd8a76c3dd9b02741c
Autor:
Feldman, George, Li, Ming, Martin, Shelden, Urbanek, Margrit, Urtizberea, J. Andoni, Fardeau, Michel, LeMerrer, Martine, Connor, J. Michael, Triffitt, James, Smith, Roger, Muenke, Maximilian, Kaplan, Frederick S., Shore, Eileen M.
Publikováno v:
In The American Journal of Human Genetics 2000 66(1):128-135
Publikováno v:
Clinical Genetics. 4:186-192
A new heritable disorder of connective tissue called the Wrinkly Skin Syndrome is described, This syndrome appears to be transmitted as an autosomal recessive disorder. Clinically it is characterized by the appearance at birth of wrinkled skin about
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd6e35930bf882650b4751095d228d4
https://doi.org/10.1111/j.1399-0004.1973.tb01141.x
https://doi.org/10.1111/j.1399-0004.1973.tb01141.x
Publikováno v:
Clinical Genetics. 4:8-16
A syndrome of keratoconus, blue sclerae, middle ear bony conduction defect and spondylolisthesis occurring in a brother and sister born to consanguineous parents is described. Eleven similar cases reported in the literature are reviewed. The narrow r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c679ffdaff270ac3cb8d1b291887ed
https://doi.org/10.1111/j.1399-0004.1973.tb01115.x
https://doi.org/10.1111/j.1399-0004.1973.tb01115.x