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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345024
Free article.
Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.
Serville F, Benit P, Saugier P, Vibert M, Royer G, Pelet A, Chery M, Munnich A, Lyonnet S.
Serville F, et al. Among authors: saugier p.
Prenat Diagn. 1993 Jun;13(6):435-9. doi: 10.1002/pd.1970130603.
Prenat Diagn. 1993.
PMID: 8372068
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Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M.
Rousseau F, et al. Among authors: saugier p.
Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11.
Nat Genet. 1995.
PMID: 7647778
No abstract available.
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Persistent elastase/proteinase inhibitor imbalance during prolonged ventilation of infants with bronchopulmonary dysplasia: evidence for the role of nosocomial infections.
Walti H, Tordet C, Gerbaut L, Saugier P, Moriette G, Relier JP.
Walti H, et al. Among authors: saugier p.
Pediatr Res. 1989 Oct;26(4):351-5. doi: 10.1203/00006450-198910000-00013.
Pediatr Res. 1989.
PMID: 2797948
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