Hakutulokset - Munnich, A

Advances in genetics: what are the benefits for patients? Tekijä Munnich, A

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Filippi syndrome: a new case with skeletal abnormalities. Tekijä Héron, D, Billette de Villemeur, T, Munnich, A, Lyonnet, S

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High incidence of SHOX anomalies in individuals with short stature Tekijä Huber, C, Rosilio, M, Munnich, A, Cormier‐Daire, V

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In vivo regulation of glycolytic and gluconeogenic enzyme gene expression in newborn rat liver. Tekijä Lyonnet, S, Coupé, C, Girard, J, Kahn, A, Munnich, A

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An animal model for maternal phenylketonuria. Tekijä Roux, C, Rey, F, Lyonnet, S, Nizard, S, Mulliez, N, Munnich, A

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De novo deletions in spinal muscular atrophy: implications for genetic counselling. Tekijä Raclin, V, Veber, P S, Bürglen, L, Munnich, A, Melki, J

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Mitochondrial DNA inheritance in patients with deleted mtDNA Tekijä Quintana-Murci, L., Rotig, A., Munnich, A., Rustin, P., Bourgeron, T.

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A Taql polymorphism in the human cyclin A gene Tekijä Paterlini, P., Mitri, M.S.De, Martin, C., Münnich, A., Bréchot, C.

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Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. Tekijä Raas-Rothschild, A, Manouvrier, S, Gonzales, M, Farriaux, J P, Lyonnet, S, Munnich, A

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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? Tekijä Amiel, J., Cormier-Daire, V., Journeau, P., Mussat, P., Munnich, A., Lyonnet, S.

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Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? Tekijä Lyonnet, S, Schwartz, G, Gatin, G, de Prost, Y, Munnich, A, Le Merrer, M

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Two distinct mutations at a single BamHI site in phenylketonuria. Tekijä Melle, D, Verelst, P, Rey, F, Berthelon, M, François, B, Munnich, A, Lyonnet, S

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Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease. Tekijä Attié, T, Till, M, Pelet, A, Edery, P, Bonnet, J P, Munnich, A, Lyonnet, S

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Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. Tekijä Burlet, P, Bürglen, L, Clermont, O, Lefebvre, S, Viollet, L, Munnich, A, Melki, J

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Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. Tekijä Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A

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mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. Tekijä Cormier, V, Rötig, A, Geny, C, Cesaro, P, Dufier, J L, Munnich, A

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Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Tekijä Lyonnet, S, Caillaud, C, Rey, F, Berthelon, M, Frézal, J, Rey, J, Munnich, A

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Tricuspid atresia and conotruncal malformations in five families Tekijä BONNET, D., FERMONT, L., KACHANER, J., SIDI, D., AMIEL, J., LYONNET, S., MUNNICH, A.

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Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation Tekijä Cormier-Daire, V., Chauvet, M., Lyonnet, S., Briard, M., Munnich, A., Le Merrer, M.

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Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method Tekijä SAUGIER-VEBER, P., DROUOT, N., LEFEBVRE, S., CHARBONNIER, F., VIAL, E., MUNNICH, A., FREBOURG, T.

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