X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients von Amorosi, Cyntia Anabel, Myskóva, Helena, Monti, Mariela Roxana, Argaraña, Carlos Enrique, Morita, Masashi, Kemp, Stephan, Dodelson de Kremer, Raquel, Dvoráková, Lenka, Oller de Ramírez, Ana María

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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder von 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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Recommendations of the 2006 Human Variome Project meeting von Cotton, Richard G.H

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Planning the Human Variome Project: The Spain report von Kaput, Jim, Cotton, Richard G.H, Hardman, Lauren, Watson, Michael, Al Aqeel, Aida I, Al-Aama, Jumana Y, Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D, Bapat, Bharati, Bernstein, Inge T, Bhak, Jong, Bleoo, Stacey L, Blöcker, Helmut, Brenner, Steven E, Burn, John, Bustamante, Mariona, Calzone, Rita, Cambon-Thomsen, Anne, Cargill, Michele, Carrera, Paola, Cavedon, Lawrence, Cho, Yoon Shin, Chung, Yeun-Jun, Claustres, Mireille, Cutting, Garry, Dalgleish, Raymond, den Dunnen, Johan T, Díaz, Carlos, Dobrowolski, Steven, dos Santos, M. Rosário N, Ekong, Rosemary, Flanagan, Simon B, Flicek, Paul, Furukawa, Yoichi, Genuardi, Maurizio, Ghang, Ho, Golubenko, Maria V, Greenblatt, Marc S, Hamosh, Ada, Hancock, John M, Hardison, Ross, Harrison, Terence M, Hoffmann, Robert, Horaitis, Rania, Howard, Heather J, Barash, Carol Isaacson, Izagirre, Neskuts, Jung, Jongsun, Kojima, Toshio, Laradi, Sandrine, Lee, Yeon-Su, Lee, Jong-Young, Gil-da-Silva-Lopes, Vera L, Macrae, Finlay A, Maglott, Donna, Marafie, Makia J, Marsh, Steven G.E, Matsubara, Yoichi, Messiaen, Ludwine M, Möslein, Gabriela, Netea, Mihai G, Norton, Melissa L, Oefner, Peter J, Oetting, William S, O'Leary, James C, de Ramirez, Ana Maria Oller, Paalman, Mark H, Parboosingh, Jillian, Patrinos, George P, Perozzi, Giuditta, Phillips, Ian R, Povey, Sue, Qi, Ming, Quin, David J, Ramesar, Rajkumar S, Richards, C. Sue, Savige, Judith, Scheible, Dagmar G, Scott, Rodney J, Seminara, Daniela, Shephard, Elizabeth A, Sijmons, Rolf H, Smith, Timothy D, Tanaka, Toshihiro, Tavtigian, Sean V, Taylor, Graham R, Teague, Jon, Töpel, Thoralf, Ullman-Cullere, Mollie, Utsunomiya, Joji, van Kranen, Henk J, Vihinen, Mauno, Webb, Elizabeth, Weber, Thomas K, Yeager, Meredith, Yeom, Young I, Yim, Seon-Hee, Yoo, Hyang-Sook

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Guideline for diagnosis, follow-up and treatment of mucopolysaccharidoses type II or Hunter disease von Grupo de Trabajo de Enfermedades poco frecuentes

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

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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants von Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea

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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina von 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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Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina von 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

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Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo von Pesaola, Favio, Kohan, Romina, Cismondi, Inés Adriana, Guelbert, Norberto, Pons, Patricia, Oller Ramírez, Ana María, Noher de Halac, Inés

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy von Amorosi, Cyntia Anabel, Treslova, Helena, Dodelson de Kremer, Raquel, Coll, María José, Dvoráková, Lenka, Oller Ramírez, Ana María

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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... von Kohan, Romina, Halac, Inés Noher de, Anzolini, Verónica Tapia, Cismondi, Adriana, Ramírez, Ana María Oller, Capra, Ana Paschini, Kremer, Raquel Dodelson de

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy von Amorosi, Cyntia Anabel, Treslova, Helena, Dodelson de Kremer, Raquel, Coll, María José, Dvoráková, Lenka, Oller Ramírez, Ana María

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy von Amorosi, Cyntia Anabel, Treslova, Helena, Dodelson de Kremer, Raquel, Coll, María José, Dvoráková, Lenka, Oller Ramírez, Ana María

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Levante; Marismas

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