Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Moncla, Anne, Malzac, Perrine, Livet, Marie-Odile, Voelckel, Marie-Antoinette, Mancini, Josette, Delaroziere, Jean Christophe, Philip, Nicole, Mattei, Jean-François
Published in Journal of medical genetics (01.07.1999)
Published in Journal of medical genetics (01.07.1999)
Get full text
Journal Article
Family Nutritional Support Improves Survival, Immune Restoration and Adherence in HIV Patients Receiving ART in Developing Country
Serrano, Charlotte, Laporte, Remi, Ide, Moussa, Nouhou, Yacouba, de Truchis, Pierre, Rouveix, Elisabeth, Adamou, Adiza, Pauly, Vanessa, Mattei, Jean-François, Gastaut, Jean-Albert
Published in Asia Pacific Journal of Clinical Nutrition (01.03.2010)
Published in Asia Pacific Journal of Clinical Nutrition (01.03.2010)
Get full text
Journal Article
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
Moncla, A, Malzac, P, Voelckel, M A, Auquier, P, Girardot, L, Mattei, M G, Philip, N, Mattei, J F, Lalande, M, Livet, M O
Published in European journal of human genetics : EJHG (01.02.1999)
Published in European journal of human genetics : EJHG (01.02.1999)
Get full text
Journal Article
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene
Badens, Catherine, Thuret, Isabelle, Michel, Gérard, Krawczak, Mickaël, Mattei, Jean-François, Lena-Russo, Danielle, Labie, Dominique, Elion, Jacques
Published in Human mutation (1996)
Published in Human mutation (1996)
Get full text
Journal Article
CpG dinucleotides are mutation hot spots in phenylketonuria
Abadie, Véronique, Lyonnet, Stanislas, Maurin, Nicole, Berthelon, Monique, Caillaud, Catherine, Giraud, Francis, Mattei, Jean-François, Rey, Jean, Rey, Françoise, Munnich, Arnold
Published in Genomics (San Diego, Calif.) (01.11.1989)
Published in Genomics (San Diego, Calif.) (01.11.1989)
Get full text
Journal Article
Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population
Badens, C, Martinez di Montemuros, F, Thuret, I, Michel, G, Mattei, J F, Cappellini, M D, Lena-Russo, D
Published in The hematology journal : the official journal of the European Haematology Association (2000)
Published in The hematology journal : the official journal of the European Haematology Association (2000)
Get full text
Journal Article