Publications by authors named "P Saugier"

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Jérémie Courraud, Eric Chater-Diehl, Benjamin Durand, Marie Vincent, Maria Del Mar Muniz Moreno, Pascale Saugier

Genet Med· November 2021

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Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
F Rousseau, P Saugier, M Le Merrer, A Munnich, A L Delezoide

Nat Genet· May 1995

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Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.
F Serville, P Benit, P Saugier, M Vibert, G Royer

Prenat Diagn· June 1993

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Persistent elastase/proteinase inhibitor imbalance during prolonged ventilation of infants with bronchopulmonary dysplasia: evidence for the role of nosocomial infections.
H Walti, C Tordet, L Gerbaut, P Saugier, G Moriette

Pediatr Res· October 1989

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