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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Among authors: loy e. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.
Prevalence and Risk Factors for Kidney Disease and Elevated BP in 2-Year-Old Children Born Extremely Premature.
Hingorani S, Schmicker R, Ahmad KA, Frantz ID, Mayock DE, La Gamma EF, Baserga M, Khan JY, Gilmore MM, Robinson T, Brophy P, Heagerty PJ, Juul SE, Goldstein S, Askenazi D; PENUT Trial Consortium; PENUT Primary Investigators and coauthors. Hingorani S, et al. Clin J Am Soc Nephrol. 2022 Aug;17(8):1129-1138. doi: 10.2215/CJN.15011121. Epub 2022 Jul 19. Clin J Am Soc Nephrol. 2022. PMID: 35853728 Free PMC article.
Depression in Diabetic Patients: What Is the Link With Eating Disorders? Results of a Study in a Representative Sample of Patients With Type 1 Diabetes.
Pinna F, Suprani F, Deiana V, Lai L, Manchia M, Paribello P, Somaini G, Diana E, Nicotra EF, Farci F, Ghiani M, Cau R, Tuveri M, Cossu E, Loy E, Crapanzano A, Grassi P, Loviselli A, Velluzzi F, Carpiniello B. Pinna F, et al. Among authors: loy e. Front Psychiatry. 2022 Jun 16;13:848031. doi: 10.3389/fpsyt.2022.848031. eCollection 2022. Front Psychiatry. 2022. PMID: 35782445 Free PMC article.
Association between Term Equivalent Brain Magnetic Resonance Imaging and 2-Year Outcomes in Extremely Preterm Infants: A Report from the Preterm Erythropoietin Neuroprotection Trial Cohort.
Mayock DE, Gogcu S, Puia-Dumitrescu M, Shaw DWW, Wright JN, Comstock BA, Heagerty PJ, Juul SE; Preterm Erythropoietin Neuroprotection (PENUT) Trial Consortium. Mayock DE, et al. J Pediatr. 2021 Dec;239:117-125.e6. doi: 10.1016/j.jpeds.2021.08.040. Epub 2021 Aug 26. J Pediatr. 2021. PMID: 34454953 Free PMC article. Clinical Trial.
40 results