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Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atr
[期刊论文] 作者:Wei Wei,Chunyue Chen,Wenting Liu,Zhenfang Du,Xiaoling Chen,Xianning Zhang,
来源:中国神经再生研究(英文版) 年份:2011
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration and loss of anterior h cells in the spinal cord and...
Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudi
[会议论文] 作者:Wei Wei,Hailong He,Chunyue Chen,Yan Zhao,Huling Jiang,Wenting Liu,Zhenfang Du,Xiaoling Chen,Shiyuan Shi,
来源:2015中国遗传学会大会 年份:2015
Ossification of the posterior longitudinal ligament (OPLL;OMIM #602475) is characterized by pathological ectopic ossification of the cervical and thoracic s...
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palm
[会议论文] 作者:Haiping Ke,Huling Jiang,Yasu Lv,Yizhou Huang,Rongrong Liu,Xiaoling Chen,Zhenfang Du,Yuqin Luo,Chenming,
来源:2015中国遗传学会大会 年份:2015
Epidermolytic palmoplantar keratoderma (EPPK, OMIM: 144200), an autosomal dominant genodermatosis first described by Vorner in 1901, is the most common form...
Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a S
[期刊论文] 作者:Jianming Jiang,Xiaoling Chen,Wenting Liu,Yan Zhao,Yangtai Guan,Yan Han,Feng Wang,Jiajun Lu,Zhiliang Yu,Zhenfang Du,
来源:中国神经再生研究(英文版) 年份:2012
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