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1دورية أكاديمية
المؤلفون: Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: genomics, whole genome sequencing, neurological disorders, neurodegeneration, CLN8, ceroid lipofuscinosis, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1379254/fullTest; https://doaj.org/toc/2296-2360Test
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2دورية أكاديمية
المؤلفون: Liliana Gadola, María Jimena Cabrera, Mariela Garau, Ruben Coitiño, María Haydée Aunchayna, Oscar Noboa, María Asunción Alvarez, Sylvia Balardini, Graciela Desiderio, Nelson Dibello, Alejandro Ferreiro, Soledad Giró, Leonella Luzardo, Alfredo Maino, Lucía Orihuela, María Gabriela Ottati, Andrés Urrestarazú
المصدر: Renal Failure, Vol 45, Iss 1 (2023)
مصطلحات موضوعية: IgA nephropathy, risk factors, kidney replacement therapy, outcomes, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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3
المؤلفون: Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, genomics, whole genome sequencing, neurological disorders, neurodegeneration, CLN8, ceroid lipofuscinosis
الإتاحة: https://doi.org/10.3389/fped.2024.1379254.s001Test
https://figshare.com/articles/dataset/Datasheet1_Two_compound_heterozygous_variants_in_the_CLN8_gene_are_responsible_for_neuronal_cereidolipofuscinoses_disorder_in_a_child_a_case_report_pdf/25728288Test -
4دورية أكاديمية
المؤلفون: Mariela Garau, Jimena Cabrera, Gabriela Ottati, Hena Caorsi, Francisco Gonzalez Martinez, Nelson Acosta, María Haydee Aunchayna, Liliana Gadola, Oscar Noboa
المصدر: PLoS ONE, Vol 13, Iss 10, p e0206637 (2018)
العلاقة: http://europepmc.org/articles/PMC6205648?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/19a5d9cc01754df197984417417e44e4Test
الإتاحة: https://doi.org/10.1371/journal.pone.0206637Test
https://doaj.org/article/19a5d9cc01754df197984417417e44e4Test