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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Daoud H, et al. Among authors: li r. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30. CMAJ. 2016. PMID: 27241786 Free PMC article.
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM. Sentell ZT, et al. Among authors: li r. Hum Mol Genet. 2024 Dec 18:ddae182. doi: 10.1093/hmg/ddae182. Online ahead of print. Hum Mol Genet. 2024. PMID: 39690811
Intra-Arterial Urokinase After Endovascular Reperfusion for Acute Ischemic Stroke: The POST-UK Randomized Clinical Trial.
Liu C, Guo C, Li F, Yu N, Huang J, Peng Z, Kong W, Song J, Liu X, Fan S, Yue C, Chen B, Zheng C, Yuan X, Sheng J, Wu Y, Sun B, Zhao Z, Zhu M, Han L, Shi Q, Xia Z, Shang X, Li F, Li R, Yue F, Jiang S, Song D, Song M, Shan Y, Ding C, Yao L, Yang Y, Chen J, He W, Pan F, Zhang W, Cai T, Han S, Li W, Li G, Gong C, Huang L, Huang C, Wang D, Kaesmacher J, Nguyen TN, Nogueira RG, Saver JL, Zi W, Chen Y, Yang Q; POST-UK investigators. Liu C, et al. Among authors: li r. JAMA. 2025 Jan 13. doi: 10.1001/jama.2024.23480. Online ahead of print. JAMA. 2025. PMID: 39804674
35,327 results
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