Showing 1 - 9 results of 9 for search 'Guelbert, Norberto', query time: 0.02s Refine Results
  1. 1
    Patologías genéticas de atesoramiento lisosomal : caracteristicas nosológica, descripción de variantes y estimación de la prevalencia relativa de las diferentes entidades de la casupística autoctona /

    Patologías genéticas de atesoramiento lisosomal : caracteristicas nosológica, descripción de variantes y estimación de la prevalencia relativa de las diferentes entidades de la cas... by Guelbert, Norberto Bernardo

    Published 2005
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  2. 2
    Enfermedades mitocondriales en Córdoba (Argentina). Estudio farmacoepidemiológico (Mitochondrial diseases in Córdoba (Argentina). Pharmacoepidemiological study.)

    Enfermedades mitocondriales en Córdoba (Argentina). Estudio farmacoepidemiológico (Mitochondrial diseases in Córdoba (Argentina). Pharmacoepidemiological study.) by Gavelli, María Emilia, Guelbert, Norberto, Mazzieri, María Rosa, Fontana, Daniela

    Published 2013
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  3. 3
    Bone Diseases as the only clinical manifestation of gaucher disease type

    Bone Diseases as the only clinical manifestation of gaucher disease type by Guelbert, Norberto, Robledo, Hugo, Becerra, Walter, Angaroni, Celia, Giner Ayala, Alicia, Ramírez Oller, Ana María, Dodelson Kremmer, Raquel

    Published 2021
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  4. 4
    Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients

    Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients by Laróvere, Laura, Silvera Ruiz, Silene, Arranz, José, Angaroni, Celia, Guelbert, Norberto, Antonozzi, Sandra, Bezard, Miriam, Dodelson de kremer, Raquel

    Published 2022
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  5. 5
    Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina

    Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina by Mugnaini, Julia, Dodelson de Kremer, Raquel, Oller Ramírez, Ana María, Azar, Nydia Beatriz, Dardis, Andrea, Becerra, Adriana, Zampieri, S., Guelbert, Norberto

    Published 2022
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  6. 6
    A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America

    A novel CLN8 missense mutation underlies variant late infantile neuronal ceroid lipofuscinosis in Latin America by Pesaola, Favio, Sismondi, Inés Adriana, Guelbert, Norberto, Kohan, Romina, Carabelos, Noelia, Alonso, Graciela, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Rita Inés

    Published 2021
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  7. 7
    A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America

    A novel CLN8 mutation underlies a late Infantile variant of neuronal ceroid lipofuscinosis in Latin America by Pesaola, Favio, Cismondi, Inés Adriana, Guelbert, Norberto, Kohan, Romina, Carabelos, María Noelia, Alonso, Graciela, Pons, Patricia, Noher de Halac, Rita Inés, Oller Ramírez, Ana María

    Published 2022
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  8. 8
    “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era

    “Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era by Pesaola, Favio, Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Inés Adriana, Becerra, Adriana, Vazquez, Juan Carlos G, Fernandez, Elmer, De Paul, Ana Lucia, Guelbert, Norberto, Noher, Inés

    Published 2021
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  9. 9
    Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America

    Neuronal ceroid lipofuscinosis type cln2: prevalent phenotypes and genotypes in Latin America by Sismondi, Inés Adriana, Guelbert, Norberto, Kohan, Romina, Carabelos, Noelia, Alonso, Graciela, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Rita Inés, Dodelson de Kremer, Raquel

    Published 2021
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