Browsing by Author "Yis, U"
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Web of Science Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome(2018.01.01) Ghosh, SG; Becker, K; Huang, H; Salazar, TD; Chai, GL; Salpietro, V; Al-Gazali, L; Waisfisz, Q; Wang, H; Vaux, KK; Stanley, V; Manole, A; Akpulat, U; Weiss, MM; Efthymiou, S; Hanna, MG; Minetti, C; Striano, P; Pisciotta, L; De Grandis, E; Altmuller, J; Nurnberg, P; Thiele, H; Yis, U; Okur, TD; Polat, AI; Amiri, N; Doosti, M; Karimani, EG; Toosi, MB; Haddad, G; Karakaya, M; Wirth, B; van Hagen, JM; Wolf, NI; Maroofian, R; Houlden, H; Cirak, S; Gleeson, JGWeb of Science Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey(2021.01.01) Daimaguler, HS; Akpulat, U; Ozdemir, O; Yis, U; Gungor, S; Talim, B; Diniz, G; Baydan, F; Thiele, H; Altmuller, J; Nurnberg, P; Cirak, S