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Page 1
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. Among authors: munnich a. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. J Med Genet. 2001. PMID: 11694546 Free PMC article.
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, Amiel J, Munnich A, Vincent MF, Cormier-Daire V. Holder-Espinasse M, et al. Among authors: munnich a. J Med Genet. 2002 Jun;39(6):440-2. doi: 10.1136/jmg.39.6.440. J Med Genet. 2002. PMID: 12070256 Free PMC article. No abstract available.
Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: munnich a. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Genevieve D, et al. Among authors: munnich a. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. doi: 10.1002/ajmg.a.10877. Am J Med Genet A. 2003. PMID: 12476459 Review.
1,068 results