Search Results - "Ghio, Addy"

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

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Gene symbol: IDS. Disease: Mucopolysaccharidosis II by Oller Ramirez, Ana María, Coll, María José, Chabás, Amparo, Azar, Nydia Beatríz, Ghio, Addy Vanina, Kremer, Raquel Dodelson

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Gene symbol: IDS. Disease: Hunter syndrome by Oller Ramirez, Ana María, Coll, María José, Chabás, Amparo, Azar, Nydia Beatríz, Ghio, Addy Vanina, Kremer, Raquel Dodelson

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Molecular diagnosis of cystic fibrosis in 93 Argentinean patients and detection of heterozygotes in affected families. Impact on health services and therapeutic advances by Oller de Ramírez, Ana M, Ghio, Addy, Melano de Botelli, Myrna, Dodelson de Kremer, Raquel

“…The cystic fibrosis is an autosomal recessive disease caused by more than 1500 mutations and variants in the cystic fibrosis transmembrane conductance…”
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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile by Cismondi, I Adriana, Kohan, Romina, Ghio, Addy, Ramirez, Ana M Oller, Halac, Inés Noher

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Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina by Oller Ramírez, Ana María, Ramos, María D., Jiménez, Javier, Ghio, Addy, de Botelli, Myrna Melano, Rezzónico, Carlos A., Marqués, Inés, Pereyro, Silvia, Casals, Teresa, de Kremer, Raquel Dodelson

“…Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000–4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory…”
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Fibrosis quística: diagnóstico molecular en 93 pacientes argentinos y detección familiar de portadores. Impacto asistencial y proyección a nuevos avances terapéuticos by Oller de Ramírez, Ana M, Ghio, Addy, Melano de Botelli, Myrna, Dodelson de Kremer, Raquel

“…Introducción. La fibrosis quística es una enfermedad autosómica recesiva causada por más de 1.500 mutaciones y variantes en el gen regulador de la conductancia…”
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