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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
DOI: 10.1016/j.ajhg.2018.10.002
Andreea Manole, Ayse Ipek Polat, Brunhilde Wirth, Carlo Minetti, Ehsan Ghayoor Karimani, Elisa De Grandis, Gabriel Haddad, Guoliang Chai, Haicui Wang, He Huang, Henry Houlden, Holger Thiele, Janine Altmüller, Johanna M. van Hagen, Keith K. Vaux, Kerstin Becker, Lihadh Al-Gazali, Livia Pisciotta, Marjan M. Weiss, Mehran B. Toosi, Mert Karakaya, Michael G. Hanna, Mohammad Doosti, Nafise Amiri, Nicole I. Wolf, Pasquale Striano, Peter Nürnberg, Quinten Waisfisz, Reza Maroofian, Sebahattin Cirak, Shereen G. Ghosh, Stephanie Efthymiou, Tracy Dixon-Salazar, Tuncay Derya Okur, Ugur Akpulat, Uluc Yis, Valentina Stanley, Vincenzo Salpietro
Abstract:
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