AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
Romero, Vanessa I, Sáenz, Samantha, Arias-Almeida, Benjamín, DiCapua, Daniela, Hosomichi, Kazuyoshi
Published in Frontiers in neurology (15.04.2024)
Published in Frontiers in neurology (15.04.2024)
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Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report
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Published in Frontiers in oncology (02.06.2022)
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Novel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report
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Published in Pediatric blood & cancer (01.09.2023)
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Evaluation of Biological Activity of Natural Compounds: Current Trends and Methods
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Published in Molecules (Basel, Switzerland) (13.07.2022)
Published in Molecules (Basel, Switzerland) (13.07.2022)
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Journal Article
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
Romero, Vanessa I, Sáenz, Samantha, Arias-Almeida, Benjamín, DiCapua, Daniela, Hosomichi, Kazuyoshi
Published in Frontiers in neurology (01.01.2024)
Published in Frontiers in neurology (01.01.2024)
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Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report
Castillo, María Isabel, Freire, Erick, Romero, Vanessa I, Arias-Almeida, Benjamín, Reyes, Carlos, Hosomichi, Kazuyoshi
Published in Frontiers in oncology (01.01.2022)
Published in Frontiers in oncology (01.01.2022)
Get full text
Report