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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report by Federico Baltar, Federico Baltar, Camila Simoes, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Hugo Naya, Lucía Spangenberg, Lucía Spangenberg, Víctor Raggio
Published 2024Connect to this object online.
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Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report by Camila Simoes, Martín Graña, Soledad Rodriguez, Federico Baltar Yanes, Alejandra Tapié, Nicolás Dell'Oca, Hugo Naya, Víctor Raggio, Lucía Spangenberg
Published 2022Connect to this object online.
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