De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias | |
Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris | |
刊名 | AMERICAN JOURNAL OF HUMAN GENETICS
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2018 | |
卷号 | 103期号:5 |
ISSN号 | 0002-9297 |
URL标识 | 查看原文 |
语种 | 英语 |
内容类型 | 期刊论文 |
URI标识 | http://www.corc.org.cn/handle/1471x/3609861 |
专题 | 复旦大学上海医学院 |
推荐引用方式 GB/T 7714 | Helbig, Katherine L.,Lauerer, Robert J.,Bahr, Jacqueline C.,et al. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias[J]. AMERICAN JOURNAL OF HUMAN GENETICS,2018,103(5). |
APA | Helbig, Katherine L..,Lauerer, Robert J..,Bahr, Jacqueline C..,Souza, Ivana A..,Myers, Candace T..,...&Mefford, Heather C..(2018).De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.AMERICAN JOURNAL OF HUMAN GENETICS,103(5). |
MLA | Helbig, Katherine L.,et al."De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias".AMERICAN JOURNAL OF HUMAN GENETICS 103.5(2018). |
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