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au.\*:("MANOUVRIER, Sylvie")

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Dystrophie myotonique de Steinert = Steinert myotonic dystrophyMANOUVRIER, Sylvie; BRIARD, Marie-Louise.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 116-120, issn 0034-222XArticle

Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newbornALAMEH, Joumana; BACHIRI, Ahmed; DEVISME, Louise et al.European journal of pediatrics. 2002, Vol 161, Num 5, pp 262-266, issn 0340-6199Conference Paper

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsHILTON, Emma; JOHNSTON, Jennifer; KOSAKI, Kenjiro et al.European journal of human genetics. 2009, Vol 17, Num 10, pp 1325-1335, issn 1018-4813, 11 p.Article

Metaphyseal chondrodysplasia with cone-shaped epiphyses: A specific form involving the lower limbsDIEUX-COËSLIER, Anne; MOERMAN, Alexandre; HOLDER, Muriel et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 60-66, issn 0148-7299, 7 p.Article

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch SyndromeBONADONA, Valérie; BONAITI, Bernard; COLAS, Chrystelle et al.JAMA, the journal of the American Medical Association. 2011, Vol 305, Num 22, pp 2304-2310, issn 0098-7484, 7 p.Article

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndromePLANCKE, Aurélie; HOLDER-ESPINASSE, Muriel; RIGAU, Valérie et al.European journal of human genetics. 2009, Vol 17, Num 11, pp 1411-1416, issn 1018-4813, 6 p.Article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityGORDILLO, Miriam; VEGA, Hugo; GIOVANNUCCI UZIELLI, Maria L et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2172-2180, issn 0964-6906, 9 p.Article

Germline deletion of the miR-17~92 cluster causes skeletal and growth defects in humansDE PONTUAL, Loïc; YAO, Evelyn; MANOUVRIER, Sylvie et al.Nature genetics. 2011, Vol 43, Num 10, pp 1026-1030, issn 1061-4036, 5 p.Article

Aneurysm syndromes caused by mutations in the TGF-β receptorLOEYS, Bart L; SCHWARZE, Ulrike; ROBERTS, Amy E et al.The New England journal of medicine. 2006, Vol 355, Num 8, pp 788-798, issn 0028-4793, 11 p.Article

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