Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Haifa Hichri"'
Autor:
Anne Blanchard, Joël Lunardi, Haifa Hichri, Rémi Salomon, Michel Remesy, Rosa Vargas Poussou, Geneviève Baujat, Nicole Monnier, Charles Coutton, Bruno Ranchin, Véronique Satre, Olivier Dorseuil, John Rendu, François Nobili
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.379. ⟨10.1002/humu.21391⟩
Human Mutation, Wiley, 2011, 32 (4), pp.379. 〈10.1002/humu.21391〉
Human Mutation, Wiley, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation; Vol 32
Human Mutation, Wiley, 2011, 32 (4), pp.379. ⟨10.1002/humu.21391⟩
Human Mutation, Wiley, 2011, 32 (4), pp.379. 〈10.1002/humu.21391〉
Human Mutation, Wiley, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Human Mutation; Vol 32
International audience; Mutations of OCRL1 are associated with both the oculocerebrorenal syndrome Lowe, a multi-systemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 di
Autor:
Solenne Caron, Didier Lacombe, Jean-Louis Mandel, Fabienne Perrin-Schmitt, Hélène Dollfus, Virginie Laurier, Morin Gilles, Sabine Sigaudy, Alain Verloes, Mureille Holder, Christian Brandt, Dominique Bonneau, Josseline Kaplan, Corinne Stoetzel, Pierre Bitoun, Mireille Cossée, Dominique Martin-Coignard, Anne-Françoise Besancon, Christian P. Hamel, Bruno Leheup, Haifa Hichri, Pierre Sarda
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2005, 13 (5), pp.607-16. ⟨10.1038/sj.ejhg.5201372⟩
European Journal of Human Genetics, Nature Publishing Group, 2005, 13 (5), pp.607-16. ⟨10.1038/sj.ejhg.5201372⟩
International audience; The phenotype of Bardet-Biedl syndrome (BBS) is defined by the association of retinitis pigmentosa, obesity, polydactyly, hypogenitalism, renal disease and cognitive impairement. The significant genetic heterogeneity of this c
Autor:
Moez Elloumi, Raihane Ben Lakhal, Haifa Hichri, Adnène Laatiri, Hatem Elghezal, Moez Gribaa, Ali Saad, Halima Sennana Sendi
Publikováno v:
Annales de Génétique. 45:131-135
Cytogenetic studies were performed on 117 Tunisian patients with de novo myelodysplastic syndromes (MDS). According to the French–American–British (FAB) criteria 40 patients presented with refractory anaemia (RA, 34%), eight with refractory anaem
Autor:
Ali Saad, Haifa Hichri, Hatem Elghezal, Moez Elloumi, Halima Sennana Sendi, Henda Temmi, Moez Gribaa, Halima Elomri, Belkiss Meddeb, Tarek Ben Othmane
Publikováno v:
Annales de Génétique. 45:29-32
This paper presents the results of a cytogenetic analysis in 139 Tunisian patients with de novo acute myeloid leukemia (AML), including 27 children aged 1–15 years and 112 adults. Mean age was 32 (range 1–75) and the M/F ratio was 1.43. Of our pa