Manouvrier S - Search Results

1

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

Manouvrier S, Moerman A, Coeslier A, Devisme L, Boute O, Le Merrer M. Manouvrier S, et al. Am J Med Genet. 2000 Feb 28;90(5):351-5. doi: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k. Am J Med Genet. 2000. PMID: 10706353

2

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poë C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C; DISSEQ Investigators Group; Thauvin-Robinet C, Lejeune C. Soilly AL, et al. BMC Health Serv Res. 2023 Apr 21;23(1):386. doi: 10.1186/s12913-023-09373-z. BMC Health Serv Res. 2023. PMID: 37085862 Free PMC article.

3

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, Parent M, Grünfeld JP, Largilliere C, Lombes A, et al. Manouvrier S, et al. J Med Genet. 1995 Aug;32(8):654-6. doi: 10.1136/jmg.32.8.654. J Med Genet. 1995. PMID: 7473662 Free PMC article.

4

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

5

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

6

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

7

[Embryofetopathy due to valproate: a pathology only little known. Apropos of 4 cases].

Espinasse M, Manouvrier S, Boute O, Farriaux JP. Espinasse M, et al. Among authors: manouvrier s. Arch Pediatr. 1996 Sep;3(9):896-9. doi: 10.1016/0929-693x(96)87582-8. Arch Pediatr. 1996. PMID: 8949354 French.

8

[Prenatal diagnosis of osteogenesis imperfecta. Two cases].

Baalbaky I, Manouvrier S, Dufour P, Devismes L, Delzenne A, Boute O, Puech F. Baalbaky I, et al. Among authors: manouvrier s. J Gynecol Obstet Biol Reprod (Paris). 1998 Jan;27(1):44-51. J Gynecol Obstet Biol Reprod (Paris). 1998. PMID: 9583044 Free article. French.

9

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.

Duval A, Boute O, Devisme L, Valat AS, Manouvrier S. Duval A, et al. Among authors: manouvrier s. Am J Med Genet. 1998 Dec 4;80(4):429-34. Am J Med Genet. 1998. PMID: 9856577

10

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy.

Jacquemin E, Cresteil D, Manouvrier S, Boute O, Hadchouel M. Jacquemin E, et al. Among authors: manouvrier s. Lancet. 1999 Jan 16;353(9148):210-1. doi: 10.1016/S0140-6736(05)77221-4. Lancet. 1999. PMID: 9923886 No abstract available.

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