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

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

对符合美国国立卫生研究院 (NIH) 标准的典型 NF1 患者进行 NF1 基因的全面 RNA 分析,具有高灵敏度,且在仅有色素沉着特征的散发病例中,突变检测结果为阴性,令人安心。

Evans, D G; Bowers, N; Burkitt-Wright, E; Miles, E; Garg, S; Scott-Kitching, V; Penman-Splitt, M; Dobbie, A; Howard, E; Ealing, J; Vassalo, G; Wallace, A J; Newman, W; Huson, S M

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989

神经纤维瘤病1型患者的死亡率:英格兰西北部:自1989年以来英国某地区精算生存率评估

Evans, D Gareth R; O'Hara, Catherine; Wilding, Anna; Ingham, Sarah L; Howard, Elizabeth; Dawson, John; Moran, Anthony; Scott-Kitching, Vilka; Holt, Felicity; Huson, Susan M

Reply to Reijmerink et al

回复 Reijmerink 等人

Garin, Intza; Mantovani, Giovanna; Aguirre, Urko; Barlier, Anne; Brix, Bettina; Elli, Francesca M; Freson, Kathleen; Grybek, Virginie; Izzi, Benedetta; Linglart, Agne's; de Nanclares, Guiomar Perez; Silve, Caroline; Thiele, Susanne; Werner, Ralf; Meirelles, Osorio D; Ding, Jun; Tanaka, Toshiko; Sanna, Serena; Yang, Hsih-Te; Dudekula, Dawood B; Cucca, Francesco; Ferrucci, Luigi; Abecasis, Goncalo; Schlessinger, David; Evans, D Gareth R; O'Hara, Catherine; Wilding, Anna; Ingham, Sarah L; Howard, Elizabeth; Dawson, John; Moran, Anthony; Scott-Kitching, Vilka; Holt, Felicity; Huson, Susan M; Hawkins, Malcolm; Boyle, Jennifer; Wright, Kathleen E; Elles, Rob; Ramsden, Simon C; O'Grady, Anna; Sweeney, Michael; Barton, David E; Burgess, Trent; Moore, Melanie; Burns, Chris; Stacey, Glyn; Gray, Elaine; Metcalfe, Paul; Hawkins, J Ross; Plantinga, Theo S; Alonso, Santos; Izagirre, Neskuts; Hervella, Montserrat; Fregel, Rosa; van der Meer, Jos W M; Netea, Mihai G; de la Rúa, Concepcion; Wilcke, Arndt; Jana Burkhardt, Carolin Ligges; Alexander, Michael; Wolf, Christiane; Quente, Elfi; Ahnert, Peter; Hoffmann, Per; Becker, Albert; Müller-Myhsok, Bertram; Cichon, Sven; Boltze, Johannes; Kirsten, Holger; Bhoj, Elizabeth J; Ramos, Purita; Baker, Linda A; Garg, Vidu; Cost, Nicholas; Nordenskjöld, Agneta; Elder, Frederick F; Bleyl, Steven B; Bowles, Neil E; Arrington, Cammon B; Delhomme, Brigitte; Vanhoutteghem, Amandine; Djian, Philippe; Zinn, Andrew R; Breman, Amy M; Ramocki, Melissa B; Kang, Sung-Hae L; Williams, Misti; Freedenberg, Debra; Patel, Ankita; Bader, Patricia I; Cheung, Sau Wai; Pillai, Sreekumar G