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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: munnich a. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.
Two distinct mutations at a single BamHI site in phenylketonuria.
Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S. Melle D, et al. Among authors: munnich a. J Med Genet. 1991 Jan;28(1):38-40. doi: 10.1136/jmg.28.1.38. J Med Genet. 1991. PMID: 1671881 Free PMC article.
A TaqI polymorphism in the human cyclin A gene.
Paterlini P, De Mitri MS, Martin C, Münnich A, Bréchot C. Paterlini P, et al. Among authors: munnich a. Nucleic Acids Res. 1991 May 11;19(9):2516. doi: 10.1093/nar/19.9.2516. Nucleic Acids Res. 1991. PMID: 1675006 Free PMC article.
1,048 results