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CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders
Farid, Tahsin; Ruzhnikov, Maura R. Z.; Duggal, Mili; Tumas, Keyla C.; Strongin, Shira; Sid, Eric; Fuchs, Sarah R.; Sacks, Leonard; Pichard, Dominique C.; Pilgrim-Grayson, Catherine; Mathe, Ewy A.; Stone, Heather A..png)
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收藏 Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review常染色体显性遗传模式重新定义了Myhre综合征的生殖咨询：一项新的家系和文献综述Brand, Maggie R.; Vanbelleghem, Eva; Kay, Alison C.; Goriely, Anne; Demir, Senol; Hulick, Peter J.; Prindeville, Breanne; Wong, Ashley W.; Callewaert, Bert; Lin, Angela E. 分享 收藏 Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System AnomaliesChen, Yiyao; Gao, Li; Han, Xu; Cao, Yunyun; Zhang, Lanlan; Wu, Yi; Zhao, Xinrong; Hu, Wenjing; Ma, Ruiyu; Hua, Renyi; Li, Niu; Wang, Yanlin; Wang, Jian; Li, Shuyuan 分享 收藏 Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology对两名患有Myhre综合征的女性进行的详细尸检，阐明了SMAD4获得性功能病理生理学的特征。Dannheim, Katelyn; Eilers, Grant; Page, Nathan C.; Garg, Shipra; Anderson, Kelsie; Colglazier, Elizabeth; Parker, Claire; Teitel, David F.; Sanchez, Henry C.; Sidebottom, Ryan; Abbott, Brandon; Knoll, Jasmine L.; Brand, Maggie R.; Mou, Hongmei; Lindsay, Mark E.; Lin, Angela E. 分享 收藏 
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