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Results: 1-9 |
Results: 9
Glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice
Authors: Badens, C Leclaire, M Collomb, J Auquier, P Soyer, P Michel, G Mattei, JF Lena-Russo, D
Citation: C. Badens et al., Glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice, PRESSE MED, 30(11), 2001, pp. 524-526
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A
Authors: Bernard, R Labelle, V Negre, P Tardieu, S Azulay, JP Malzac, P Mattei, JF Leguern, E Philip, N Levy, N
Citation: R. Bernard et al., Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A, EUR J HUM G, 8(3), 2000, pp. 229-235
A first molecular approach towards CGG repeat expansion in FMR1 gene in systemic lupus erythematosus and in Sjogren's syndrome: A preliminary report
Authors: Granel, B Ravix, V Pedeillier, K Serratrice, J Disdier, P Voelckel, MA Mattei, JF Weiller, PJ
Citation: B. Granel et al., A first molecular approach towards CGG repeat expansion in FMR1 gene in systemic lupus erythematosus and in Sjogren's syndrome: A preliminary report, CLIN RHEUMA, 19(4), 2000, pp. 262-264
The embryo and ethics
Authors: Mattei, JF
Citation: Jf. Mattei, The embryo and ethics, B ACA N MED, 184(6), 2000, pp. 1227-1235
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelmansyndrome patients
Authors: Moncla, A Malzac, P Voelckel, MA Auquier, P Girardot, L Mattei, MG Philip, N Mattei, JF Lalande, M Livet, MO
Citation: A. Moncla et al., Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelmansyndrome patients, EUR J HUM G, 7(2), 1999, pp. 131-139
Characterization of a new polymorphism, IVS-I-108 (T -> C), and a new beta-thalassemia mutation,-27 (A -> T), discovered in the course of a prenatal diagnosis
Authors: Badens, C Jassim, N Martini, N Mattei, JF Elion, J Lena-Russo, D
Citation: C. Badens et al., Characterization of a new polymorphism, IVS-I-108 (T -> C), and a new beta-thalassemia mutation,-27 (A -> T), discovered in the course of a prenatal diagnosis, HEMOGLOBIN, 23(4), 1999, pp. 339-344
Prevention of hereditary hemoglobin disorders.
Authors: Badens, C Mattei, JF Lena-Russo, D
Citation: C. Badens et al., Prevention of hereditary hemoglobin disorders., ANN PEDIAT, 46(1), 1999, pp. 8-14
Angelman syndrome resulting from UBE3A mutations in 14 patients from eightfamilies: clinical manifestations and genetic counselling
Authors: Moncla, A Malzac, P Livet, MO Voelckel, MA Mancini, J Delaroziere, JC Philip, N Mattei, JF
Citation: A. Moncla et al., Angelman syndrome resulting from UBE3A mutations in 14 patients from eightfamilies: clinical manifestations and genetic counselling, J MED GENET, 36(7), 1999, pp. 554-560
General conclusions.
Authors: Mattei, JF
Citation: Jf. Mattei, General conclusions., PATH BIOL, 46(9), 1998, pp. 717-720
Risultati: 1-9 |