Čájehuvvojit 1 - 4 oktiibuot 4 bohtosis ohcui Carrozzo, R' Sirdás sisdollui
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Aiddostahtton
  • Dahkki
  • Carrozzo, R
Čájehuvvojit 1 - 4 oktiibuot 4 bohtosis ohcui Carrozzo, R', ohcanáigi: 0,03s Aiddostahte ozu
  1. 1
    A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.

    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 1999
    Journal article
  2. 2
    A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

    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 2000
    Journal article
  3. 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-q12.2.

    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 2001
    Journal article
  4. 4
    Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

    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 2004
    Journal article

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