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A two-hit model for developmental defects in Gorlin syndrome.
Levanat S, Gorlin RJ, Fallet S, Johnson DR, Fantasia JE, Bale AE. Levanat S, et al. Among authors: fallet s. Nat Genet. 1996 Jan;12(1):85-7. doi: 10.1038/ng0196-85. Nat Genet. 1996. PMID: 8528259 No abstract available.
Prenatal detection of monosomy 21 mosaicism.
Ghidini A, Fallet S, Robinowitz J, Lockwood CJ, Dische R, Willner J. Ghidini A, et al. Among authors: fallet s. Prenat Diagn. 1993 Mar;13(3):163-9. doi: 10.1002/pd.1970130303. Prenat Diagn. 1993. PMID: 8506217 Review.
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: fallet s. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Al-Sannaa NA, Bay L, Barbouth DS, Benhayoun Y, Goizet C, Guelbert N, Jones SA, Kyosen SO, Martins AM, Phornphutkul C, Reig C, Pleat R, Fallet S, Ivanovska Holder I. Al-Sannaa NA, et al. Among authors: fallet s. Orphanet J Rare Dis. 2015 Oct 7;10:131. doi: 10.1186/s13023-015-0344-4. Orphanet J Rare Dis. 2015. PMID: 26446585 Free PMC article.
27 results