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Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J, Legeai-Mallet L. Francannet C, et al. Among authors: munnich a. J Med Genet. 2001 Jul;38(7):430-4. doi: 10.1136/jmg.38.7.430. J Med Genet. 2001. PMID: 11432960 Free PMC article.
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. Among authors: munnich a. 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.
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M. Rousseau F, et al. Among authors: munnich a. Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11. Nat Genet. 1995. PMID: 7647778 No abstract available.
FGFR2 mutations in Pfeiffer syndrome.
Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D. Lajeunie E, et al. Among authors: munnich a. Nat Genet. 1995 Feb;9(2):108. doi: 10.1038/ng0295-108. Nat Genet. 1995. PMID: 7719333 No abstract available.
1,068 results