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Year Number of Results
1993 1
1994 1
1995 1
1996 2
1997 1
1998 1
2022 0
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Page 1
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Souied E, Segues B, Ghazi I, Rozet JM, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard ML, Plessis G, Dufier JL, Munnich A, Kaplan J. Souied E, et al. Among authors: segues b. J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793. J Med Genet. 1997. PMID: 9350809 Free PMC article.
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Gilbert-Dussardier B, Segues B, Rozet JM, Rabier D, Calvas P, de Lumley L, Bonnefond JP, Munnich A. Gilbert-Dussardier B, et al. Among authors: segues b. Hum Mutat. 1996;8(1):74-6. doi: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8807340 No abstract available.