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Page 1
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: manouvrier s. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365 Free article.
Dyssegmental dysplasia with glaucoma.
Maroteaux P, Manouvrier S, Bonaventure J, Le Merrer M. Maroteaux P, et al. Among authors: manouvrier s. Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723085
Prenatal diagnosis of thrombocytopenia-absent radius syndrome.
Boute O, Depret-Mosser S, Vinatier D, Manouvrier S, Martin de Lassale E, Farriaux JP, Monnier JC. Boute O, et al. Among authors: manouvrier s. Fetal Diagn Ther. 1996 May-Jun;11(3):224-30. doi: 10.1159/000264307. Fetal Diagn Ther. 1996. PMID: 8739592
Brachmann-de Lange syndrome: pre- and postnatal findings.
Manouvrier S, Espinasse M, Vaast P, Boute O, Farre I, Dupont F, Puech F, Gosselin B, Farriaux JP. Manouvrier S, et al. Am J Med Genet. 1996 Mar 29;62(3):268-73. doi: 10.1002/(SICI)1096-8628(19960329)62:3<268::AID-AJMG12>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8882785
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T. Saugier-Veber P, et al. Among authors: manouvrier s. Hum Mutat. 1998;12(4):259-66. doi: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9744477
84 results