Čájehuvvojit 1 - 4 oktiibuot 4 bohtosis ohcui Carrozzo, R', ohcanáigi: 0,03s
Aiddostahte ozu
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1
A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family. Dahkki Gibbons, R, Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, DR
Almmustuhtton 1999Journal article -
2
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. Dahkki Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, D, Gibbons, R
Almmustuhtton 2000Journal article -
3
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12... Dahkki Guerrini, R, Bonanni, P, Patrignani, A, Brown, P, Parmeggiani, L, Grosse, P, Brovedani, P, Moro, F, Aridon, P, Carrozzo, R, Casari, G
Almmustuhtton 2001Journal article -
4
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Dahkki Cosma, M, Pepe, S, Parenti, G, Settembre, C, Annunziata, I, Wade-Martins, R, Di Domenico, C, Di Natale, P, Mankad, A, Cox, B, Uziel, G, Mancini, G, Zammarchi, E, Donati, M, Kleijer, W, Filocamo, M, Carrozzo, R, Carella, M, Ballabio, A
Almmustuhtton 2004Journal article