The odyssey of complex neurogenetic disorders: From undetermined to positive
Salinas, Valeria, Vega, Patricia, Marsili, Luca, Pérez‐Maturo, Josefina, Martínez, Nerina, Zavala, Lucia, González‐Morón, Dolores, Medina, Nancy, Rodriguez‐Quiroga, Sergio A., Amartino, Hernán, Maxit, Clarisa, Sturchio, Andrea, Grimberg, Barbara, Duque, Kevin, Comas, Betiana, Silva, Walter, Consalvo, Damián, Sfaello, Ignacio, Espay, Alberto J., Kauffman, Marcelo A.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
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Alternative end-joining originates stable chromosome aberrations induced by etoposide during targeted inhibition of DNA-PKcs in ATM-deficient tumor cells
de Campos Nebel, Marcelo, Palmitelli, Micaela, Pérez Maturo, Josefina, González-Cid, Marcela
Published in Chromosome research (01.12.2022)
Published in Chromosome research (01.12.2022)
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Journal Article
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
Córdoba, Marta, Rodriguez-Quiroga, Sergio Alejandro, Vega, Patricia Analía, Salinas, Valeria, Perez-Maturo, Josefina, Amartino, Hernán, Vásquez-Dusefante, Cecilia, Medina, Nancy, González-Morón, Dolores, Kauffman, Marcelo Andrés
Published in PloS one (01.02.2018)
Published in PloS one (01.02.2018)
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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
Salinas, Valeria, Martínez, Nerina, Maturo, Josefina Pérez, Rodriguez-Quiroga, Sergio A., Zavala, Lucia, Medina, Nancy, Amartino, Hernán, Sfaello, Ignacio, Agosta, Guillermo, Serafín, Eva Maria, Morón, Dolores González, Kauffman, Marcelo A., Vega, Patricia
Published in European journal of medical genetics (01.12.2021)
Published in European journal of medical genetics (01.12.2021)
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Journal Article
Inferring parental gonadal mosaicism in LMNA‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
Perez Maturo, Josefina, Vega, Patricia, Medina, Nancy, Salinas, Valeria, Pauni, Micaela, Agosta, Guillermo, Muntadas Rausei, Javier, Kauffman, Marcelo
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Journal Article
A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
Rodriguez‐Quiroga, Sergio, Zavala, Lucia, Pérez Maturo, Josefina, González‐Morón, Dolores, Garretto, Nelida, Kauffman, Marcelo A.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.04.2020)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.04.2020)
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Journal Article
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort
Martinez, Nerina, Rosales, Julieta, Medina, Nancy, Perez-Maturo, Josefina, Salinas, Valeria, Zavala, Lucia, Vega, Patricia, Rodríguez-Quiroga, Sergio, Morón, Dolores González, Kauffman, Marcelo A.
Published in Journal of inborn errors of metabolism and screening (2021)
Published in Journal of inborn errors of metabolism and screening (2021)
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Journal Article
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy
Salinas, Valeria, Vega, Patricia, Piccirilli, María Victoria, Chicco, Carla, Ciraolo, Carlos, Christiansen, Silvia, Consalvo, Damián, Perez-Maturo, Josefina, Medina, Nancy, González-Morón, Dolores, Novaro, Virginia, Perrone, Cecilia, García, María del Carmen, Agosta, Guillermo, Silva, Walter, Kauffman, Marcelo
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
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Journal Article
A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas
Rodriguez-Quiroga, Sergio, Zavala, Lucia, Pérez Maturo, Josefina, González-Morón, Dolores, Garretto, Nelida, Kauffman, Marcelo A
Published in Movement disorders clinical practice (01.04.2020)
Published in Movement disorders clinical practice (01.04.2020)
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