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

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

TRAPPC6B双等位基因变异会导致一种伴有TRAPP II和转运障碍的神经发育障碍。

Hashem Almousa ,Sara A Lewis ,Somayeh Bakhtiari ,Sandra Hinz Nordlie ,Alex Pagnozzi ,Helen Magee ,Stephanie Efthymiou ,Jennifer A Heim ,Patricia Cornejo ,Maha S Zaki ,Najwa Anwar ,Shazia Maqbool ,Fatima Rahman ,Derek E Neilson ,Anusha Vemuri ,Sheng Chih Jin ,Xiao-Ru Yang ,Abolfazl Heidari ,Koen van Gassen ,Aurélien Trimouille ,Christel Thauvin-Robinet ,James Liu ,Ange-Line Bruel ,Hoda Tomoum ,Mennatallah O Shata ,Mais O Hashem ,Mehran Beiraghi Toosi ,Ehsan Ghayoor Karimiani ,Gözde Yeşil ,Lokesh Lingappa ,Debangana Baruah ,Farnoosh Ebrahimzadeh ,Julien Van-Gils ,Laurence Faivre ,Mina Zamani ,Hamid Galehdari ,Saeid Sadeghian ,Gholamreza Shariati ,Rahema Mohammad ,Jasper van der Smagt ,Alya Qari ,John B Vincent ,A Micheil Innes ,Ali Dursun ,R Köksal Özgül ,Halil Tuna Akar ,Kaya Bilguvar ,Cyril Mignot ,Boris Keren ,Claudia Raveli ,Lydie Burglen ,Alexandra Afenjar ,Laura Donker Kaat ,Marjon van Slegtenhorst ,Fowzan Alkuraya ,Henry Houlden ,Sergio Padilla-Lopez ,Reza Maroofian ,Michael Sacher ,Michael C Kruer

Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey

脂肪营养不良的诊断、治疗和管理:医生对患者就医历程的视角

Patni, Nivedita; Chard, Craig; Araújo-Vilar, David; Phillips, Helen; Magee, David A; Akinci, Baris

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

干扰ALADIN结合的NDC1双等位基因变异与神经病变和三A样综合征相关。

Daphne J Smits ,Jordy Dekker ,Hannie Douben ,Rachel Schot ,Helen Magee ,Somayeh Bakhtiari ,Katrin Koehler ,Angela Huebner ,Markus Schuelke ,Hossein Darvish ,Shohreh Vosoogh ,Abbas Tafakhori ,Melika Jameie ,Ehsan Taghiabadi ,Yana Wilson ,Margit Shah ,Marjon A van Slegtenhorst ,Evita G Medici-van den Herik ,Tjakko J van Ham ,Michael C Kruer ,Grazia M S Mancini

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

破坏神经突发生基因的突变会导致脑瘫风险

Sheng Chih Jin #, Sara A Lewis #, Somayeh Bakhtiari #, Xue Zeng #, Michael C Sierant, Sheetal Shetty, Sandra M Nordlie, Aureliane Elie, Mark A Corbett, Bethany Y Norton, Clare L van Eyk, Shozeb Haider, Brandon S Guida, Helen Magee, James Liu, Stephen Pastore, John B Vincent, Janice Brunstrom-Hernand

Race and Hepatitis C Care Continuum in an Underserved Birth Cohort

种族与弱势出生队列中丙型肝炎护理连续性的关系

Kim, Nicole J; Locke, Cameron J; Park, Helen; Magee, Catherine; Bacchetti, Peter; Khalili, Mandana

Modulation of CRMP2 via (S)-Lacosamide shows therapeutic promise but is ultimately ineffective in a mouse model of CLN6-Batten disease

通过 (S)-拉科酰胺调节 CRMP2 显示出治疗前景,但最终在 CLN6-Batten 病小鼠模型中无效

Katherine A White, Jacob T Cain, Helen Magee, Seul Ki Yeon, Ki Duk Park, Rajesh Khanna, Jill M Weimer