Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Microvillus Inclusion Disease[original query] |
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Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells. Arteriosclerosis, thrombosis, and vascular biology 2018 Jun . Schillemans Maaike, Karampini Ellie, van den Eshof Bart, Gangaev Anastasia, Hofman Menno, van Breevoort Dorothee, Meems Henriët, Janssen Hans, Mulder Aat A, Jost Carolina R, Escher Johanna C, Adam Rüdiger, Carter Tom, Koster Abraham J, van den Biggelaar Maartje, Voorberg Jan, Bierings Rub |
Risk and Clinical Significance of Idiopathic Preterm Birth in Microvillus Inclusion Disease. Journal of clinical medicine 2021 9 10 (17): . Leng Changsen, Sun Yue, van IJzendoorn Sven C |
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation. Liver international : official journal of the International Association for the Study of the Liver 2021 11 42 (2): 402-411. Wang Li, Qiu Yi-Ling, Xu Hong-Mei, Zhu Jing, Li Shuang-Jie, OuYang Wen-Xian, Yang Yong-Feng, Lu Yi, Xie Xin-Bao, Xing Qing-He, Wang Jian-S |
Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea. Frontiers in genetics 2022 6 13 872836. Zheng Yu, Peng Yuming, Zhang Shuju, Zhao Hongmei, Chen Weijian, Yang Yongjia, Hu Zhengmao, Yin Qiang, Peng |
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