Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature
Sprute, Rosanne, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagüler, Hülya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral, Cirak, Sebahattin
Published in Human genome variation (22.05.2019)
Published in Human genome variation (22.05.2019)
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A rare cause of developmental delay and epilepsy in two siblings: Asparagine synthetase deficiency
Topcu, Meral, Ardicli, Didem, Malenica, Anna, Coskun, Turgay, Oguz, Kader Karli, Becker, Kerstin, Cirak, Sebahattin
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Novel mutations in SLC6A5 with benign course in hyperekplexia
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Published in Cold Spring Harbor molecular case studies (01.12.2019)
Published in Cold Spring Harbor molecular case studies (01.12.2019)
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Modular access connection system
Adams, Russell D, Fry, William, DeLay, Shawn M, Farrell, Roderick A, Todoric, Savo, Bain, David, Malenica, Anna
Year of Publication 08.09.2020
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Year of Publication 08.09.2020
Patent
MODULAR ACCESS CONNECTION SYSTEM
Adams, Russell D, Fry, William, DeLay, Shawn M, Farrell, Roderick A, Todoric, Savo, Bain, David, Malenica, Anna
Year of Publication 18.10.2018
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Year of Publication 18.10.2018
Patent
SIGNAL SPLITTER/COMBINER WITH AN ELECTRO-MAGNETIC INTERFERENCE FILTER
TODORIC, SAVO, FARRELL, RODERICK A, ADAMS, RUSSELL D, MALENICA, ANNA, FRY, WILLIAM, DELAY, SHAWN M, BAIN, DAVID
Year of Publication 17.10.2018
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Year of Publication 17.10.2018
Patent