Search Results - Cismondi, I Adriana

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  1. 1
    Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile

    Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

    Published in Human genetics
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  2. 2
    Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile

    Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile by Kohan, Romina, Muller, Vivien J, Fietz, Michael J, Cismondi, Adriana I, Oller Ramírez, Ana M, Halac, Inés Noher

    Published in Human genetics
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  3. 3
    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant

    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant by Cismondi, I Adriana, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Kohan, Romina, Oller Ramírez, Ana M, Halac, Inés Noher

    Published in Human genetics
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  4. 4
    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant

    Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant by Kohan, Romina, Cannelli, Natalia, Aiello, Chiara, Santorelli, Filippo M, Cismondi, Adriana I, Milà, Montserrat, Oller Ramírez, Ana M, Halac, Inés Noher

    Published in Human genetics
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  5. 5
    Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile

    Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

    Published in Human genetics
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  6. 6
    Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

    Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America by Kohan, Romina, Carabelos, María Noelia, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Cismondi, Inés Adriana, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., Dodelson de Kremer, Raquel, Oller-Ramírez, Ana María, Noher de Halac, Inés

    Published in Gene
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  7. 7
    Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

    Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview by Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Ines Adriana, Becerra, Adriana, Vazquez, Juan Carlos, Fernández, Elmer Andrés, De Paul, Ana Lucía, Guelbert, Norberto, Noher, Ines, Pesaola, Favio

    Published in Frontiers in neurology
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  8. 8
    The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

    The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina by Kohan, Romina, Pesaola, Favio, Guelbert, Norberto, Pons, Patricia, Oller-Ramírez, Ana María, Rautenberg, Gisela, Becerra, Adriana, Sims, Katherine, Xin, Winnie, Cismondi, Inés Adriana, de Halac, Inés Noher

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  9. 9
    “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

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  10. 10
    Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

    Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder by Cismondi, Inés Adriana, Kohan, Romina, Adams, Heather, Bond, Mike, Brown, Rachel, Cooper, Jonathan D., de Hidalgo, Perla K., Holthaus, Sophia-Martha Kleine, Mole, Sara E., Mugnaini, Julia, de Ramirez, Ana María Oller, Pesaola, Favio, Rautenberg, Gisela, Platt, Frances M., de Halac, Inés Noher

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  11. 11
    Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile ( CLN1) and late infantile ( CLN2) neuronal ceroid lipofuscinoses

    Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile ( CL... by Kohan, Romina, Halac, Inés Noher de, Anzolini, Verónica Tapia, Cismondi, Adriana, Ramírez, Ana María Oller, Capra, Ana Paschini, Kremer, Raquel Dodelson de

    Published in Clinical biochemistry
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