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

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

多学科专家的参与最大程度地利用全基因组测序诊断罕见疾病

William L Macken #, Micol Falabella #, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E Woodward, Yogen Patel, Robyn Labrum; Genomics England Research Consortium; Rahul Phadke, Mary M Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

脊髓小脑共济失调的遗传学和临床表现的复杂性 17

Suran Nethisinghe, Wei N Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P Lunn, Kailash P Bhatia, Nicholas W Wood, John Hardy, James M Polke, Liana Veneziano,

The clinical and genetic heterogeneity of paroxysmal dyskinesias

阵发性运动障碍的临床和遗传异质性

Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann, Tom Warner, Paul Jarman, Mike Hanna, Manju A Kurian, Kailash P Bhatia, Henry Houlden