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10
"Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder" (2015) Nemirovsky, S.I.;Córdoba, M.;Zaiat, J.J. (...)Kauffman, M.A. PLoS ONE. 10(2)
"Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder" (2015) Nemirovsky, S.I.;Córdoba, M.;Zaiat, J.J. (...)Kauffman, M.A. PLoS ONE. 10(2)
"Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm" (2014) Luce, L.N.;Ottaviani, D.;Ferrer, M. (...)Giliberto, F. Muscle and Nerve. 49(2):249-256
"Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm" (2014) Luce, L.N.;Ottaviani, D.;Ferrer, M. (...)Giliberto, F. Muscle and Nerve. 49(2):249-256
"Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina" (1997) Iglesias, D.M.;Martín, R.S.;Fraga, A. (...)Bernath, V. Journal of Medical Genetics. 34(10):827-830
"Putative association of a mutant ROM1 allele with retinitis pigmentosa" (1997) Martínez-Mir, A.;Vilela, C.;Bayés, M. (...)Vilaseliu, L. Human Genetics. 99(6):827-830
"Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda" (1980) Magnin, P.H.;de Xifra, E.A.W.;Lenczner, M. (...)del C. Batlle, A.M. International Journal of Biochemistry. 12(5-6):873-877
"Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda" (1980) Magnin, P.H.;de Xifra, E.A.W.;Lenczner, M. (...)del C. Batlle, A.M. International Journal of Biochemistry. 12(5-6):873-877
"The measurement of erythrocyte uroporphyrinogen i synthase in the diagnosis of latent and acute intermittent porphyria" (1980) Brocklehurst, D.; Wider De Xifra, E.A.; Batlle, A. International Journal of Biochemistry. 12(5-6):791-793