相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Cockayne syndrome type: a very rare association with hemorrhagic stroke
Basak Atalay et al.
TURKISH JOURNAL OF PEDIATRICS (2021)
Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke
Robert C. Stowe et al.
PEDIATRIC NEUROLOGY (2018)
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome
Daniel C. Koboldt et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Brian T. Wilson et al.
GENETICS IN MEDICINE (2016)
Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics
Benjamin J. Kelly et al.
GENOME BIOLOGY (2015)
Brain vascular changes in Cockayne syndrome
Masaharu Hayashi et al.
NEUROPATHOLOGY (2012)
A Comprehensive Description of the Severity Groups in Cockayne Syndrome
Valerie Natale
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
Karen M. Weidenheim et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2009)