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Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Among authors: sigaudy s. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147
About familial interstitial nephritis and retinitis pigmentosa.
Tsimaratos M, Sigaudy S, Philip N, Sarles J. Tsimaratos M, et al. Among authors: sigaudy s. Nephrol Dial Transplant. 1998 Feb;13(2):522. doi: 10.1093/oxfordjournals.ndt.a027865. Nephrol Dial Transplant. 1998. PMID: 9509479 No abstract available.
Costello syndrome.
Philip N, Sigaudy S. Philip N, et al. Among authors: sigaudy s. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.
Neonatal death in Marshall-Smith syndrome.
Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: sigaudy s. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581
CHARGE syndrome: report of 47 cases and review.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Among authors: sigaudy s. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
130 results