Ayme S - Search Results

1

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N. Sigaudy S, et al. Among authors: ayme s. Am J Med Genet. 1998 Oct 30;80(1):16-24. Am J Med Genet. 1998. PMID: 9800907 Review.

2

Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Philip N, et al. Among authors: ayme s. J Med Genet. 1992 Jul;29(7):497-9. J Med Genet. 1992. PMID: 1640432 Free PMC article.

3

Prenatal diagnosis of Fryns' syndrome.

Pellissier MC, Philip N, Potier A, Scheiner C, Aymé S, Mattei JF, Giraud F. Pellissier MC, et al. Among authors: ayme s. Prenat Diagn. 1992 Apr;12(4):299-303. doi: 10.1002/pd.1970120410. Prenat Diagn. 1992. PMID: 1614987 Review.

4

Walker-Warburg syndrome: a report of 3 cases.

Denis D, Gambarelli D, Luciani A, Aymé S, Philip N, Saracco JB. Denis D, et al. Among authors: ayme s. Ophthalmologica. 1993;207(3):113-6. doi: 10.1159/000310416. Ophthalmologica. 1993. PMID: 8278176

5

Possible homozygous Waardenburg syndrome in a fetus with exencephaly.

Aymé S, Philip N. Aymé S, et al. Am J Med Genet. 1995 Nov 6;59(2):263-5. doi: 10.1002/ajmg.1320590227. Am J Med Genet. 1995. PMID: 8588597 No abstract available.

6

Neonatal death in Marshall-Smith syndrome.

Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: ayme s. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581

7

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Verloes A, et al. Among authors: ayme s. J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. J Med Genet. 1991. PMID: 1865466 Free PMC article. Review.

8

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology.

Philip N, Gambarelli D, Guys JM, Camboulives J, Ayme S. Philip N, et al. Among authors: ayme s. Eur J Pediatr. 1991 Aug;150(10):726-9. doi: 10.1007/BF01958765. Eur J Pediatr. 1991. PMID: 1915486

9

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

Aymé S, Philip N. Aymé S, et al. Am J Med Genet. 1997 Jun 13;70(3):333-5. doi: 10.1002/(sici)1096-8628(19970613)70:3<333::aid-ajmg24>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9188678 No abstract available.

10

Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

Julian-Reynier C, Philip N, Scheiner C, Aurran Y, Chabal F, Maron A, Gombert A, Aymé S. Julian-Reynier C, et al. Among authors: ayme s. J Epidemiol Community Health. 1994 Jun;48(3):290-6. doi: 10.1136/jech.48.3.290. J Epidemiol Community Health. 1994. PMID: 8051530 Free PMC article.

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