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

A Rare Presentation of a Hydatid Cyst in the Brain

脑部包虫囊肿的罕见病例

Di Dier, Kelly; Dekeyzer, Sven; De Praeter, Mania

Rare Oncogenic Fusions in Pediatric Central Nervous System Tumors: A Case Series and Literature Review

儿童中枢神经系统肿瘤中罕见致癌基因融合:病例系列及文献综述

Ahmed, Melek; Sieben, Anne; Van Genechten, Toon; Libbrecht, Sasha; Gilis, Nathalie; De Praeter, Mania; Fricx, Christophe; Calò, Pierluigi; Van Campenhout, Claude; D'Haene, Nicky; Witte, Olivier De; Kempen, Léon C Van; Lammens, Martin; Salmon, Isabelle; Lebrun, Laetitia

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

两名互不相关的颅缝早闭和桡尺骨缝早闭患者携带纯合SMAD6变异

Luyckx, Ilse; Walton, Isaac Scott; Boeckx, Nele; Van Schil, Kristof; Pang, Chingyiu; De Praeter, Mania; Lord, Helen; Watson, Christopher Mark; Bonthron, David T; Van Laer, Lut; Wilkie, Andrew O M; Loeys, Bart

A rare trifocal presentation of a choroid plexus papilloma: Case report and review of the literature

脉络丛乳头状瘤的罕见三灶性表现:病例报告及文献复习

Broekx, Senne; De Praeter, Mania

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Aicardi-Goutieres综合征的临床和分子表型

Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Ostergaard, John R; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

一种由葡萄糖苷酶 I 缺乏导致的 N-连接寡糖生物合成缺陷引起的新型疾病。

De Praeter CM; Gerwig, G J; Bause, E; Nuytinck, L K; Vliegenthart, J F; Breuer, W; Kamerling, J P; Espeel, M F; Martin, J J; De Paepe AM; Chan, N W; Dacremont, G A; Van Coster RN

Simple test to distinguish between surgical and non-surgical pneumoperitoneum in ventilated neonates

区分接受机械通气的新生儿手术性气腹和非手术性气腹的简易测试

Vanhaesebrouck, P; Leroy, J G; De Praeter, C; Parijs, M; Thiery, M