日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Young adolescent with trisomy 13

患有13号染色体三体综合征的青少年

Kramer, Britt C E; Abdullahi, Najma S; Ten Have, Loekie C; van den Elzen, Annette P M

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

HIST1H1E C端尾部功能异常加速细胞衰老并导致过早衰老

Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, M E Suzanne; Meuwissen, Marije; Kenis, Sandra; Van der Aa, Nathalie; Larson, Austin; Brown, Kathleen; Wasserstein, Melissa P; Skotko, Brian G; Begtrup, Amber; Person, Richard; Karayiorgou, Maria; Roos, J Louw; Van Gassen, Koen L; Koopmans, Marije; Bijlsma, Emilia K; Santen, Gijs W E; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia A L; Hoffer, Mariette J V; Lalani, Seema R; Streff, Haley; Craigen, William J; Graham, Brett H; van den Elzen, Annette P M; Kamphuis, Daan J; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; Wojcik, Monica H; Viberti, Clara; Di Gaetano, Cornelia; Bertini, Enrico; Petrucci, Simona; De Luca, Alessandro; Rota, Rossella; Ferretti, Elisabetta; Matullo, Giuseppe; Dallapiccola, Bruno; Sgura, Antonella; Walkiewicz, Magdalena; Kooy, R Frank; Tartaglia, Marco

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

首两例无关的单独景天庚酮糖激酶缺乏症病例:一种良性疾病?

Mirjam M C Wamelink, Ruben J J F Ramos, Annette P M van den Elzen, George J G Ruijter, Ramon Bonte, Luisa Diogo, Paula Garcia, Nelson Neves, Benjamin Nota, Arvand Haschemi, Isabel Tavares de Almeida, Gajja S Salomons