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Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants by Melissa Daou, Mirna Souaid, Tony Yammine, Issam Khneisser, Hicham Mansour, Nabiha Salem, Antony Nemr, Johnny Awwad, Adib Moukarzel, Chantal Farra
Published 2023-02-01
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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy by Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian
Published 2022-09-01
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