Search Results - "Saravanakumar, Deepa"

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center by Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D, Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K, Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian

“…Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide…”
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P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort by Boettcher, Tobias, Beetz, Christian, Schulze, Daniel, Saravanakumar, Deepa, Zonic, Emir, Schroeder, Sabine, Kaune, Anett, Paknia, Omid, Basto, Jorge Pinto, Bauer, Peter

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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing by Zonic, Emir, Ferreira, Mariana, Pardo, Luba M., Martini, Javier, Rocha, Maria Eugenia, Aanicai, Ruxandra, Ordonez-Herrera, Natalia, Saravanakumar, Deepa, Almeida, Ligia S., Fernandes, Inês C., Gulati, Nishtha, Mannepalli, Sumanth, Hercegovac, Amela, Al-Ali, Ruslan, Pereira, Catarina, Paknia, Omid, Hladnik, Uros, Bauer, Peter, Pinto Basto, Jorge, Bertoli-Avella, Aida M.

“…Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large…”
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