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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 13, 2014
Congenital microcephalyDiana Alcantara, Mark O'Driscoll
Annals of Work Exposures and Health|August 26, 2021
Health Effects of Chronic Intermittent Hypoxia at a High Altitude among Chilean Miners: Rationale, Design, and Baseline Results of a Longitudinal StudySergio Muñoz, Carolina Nazzal, Daniel Jimenez, et al.
Mechanisms of Ageing and Development|March 1, 2011
CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase functionClaudia Kerzendorfer, Lesley Hart, Rita Colnaghi, et al.
Environmental Epidemiology (Philadelphia, Pa.)|December 15, 2021
Association between maximum temperature and PM<sub>2.5</sub> with pregnancy outcomes in Lima, PeruVilma L Tapia, Bertha Vanessa Vasquez-Apestegui, Diana Alcantara-Zapata, et al.
Drugs in Context|January 24, 2024
Review and expert opinion on MAFLD, oxidative stress and multifunctional managementFrancesco Angelico, Diana Alcantara-Payawal, Rafiz Abdul Rani, et al.
Human Mutation|November 24, 2015
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"Nataliya Di Donato, Andreas Rump, Ghayda M Mirzaa, et al.
Plos Genetics|March 22, 2013
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndromeTom Stiff, Meryem Alagoz, Diana Alcantara, et al.
Human Molecular Genetics|September 22, 2017
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activationDiana Alcantara, Frances Elmslie, Martine Tetreault, et al.
Tropical Medicine and Infectious Disease|November 26, 2024
Differences in Cytokine Expression at Baseline and in Response to Mineral Stimulation by Peripheral Blood Mononuclear Cells from Podoconiosis Cases and Healthy Control IndividualsMikias Negash, Tigist Girma, Menberework Chanyalew, et al.
Nature Communications|March 6, 2024
Evidence for immune activation in pathogenesis of the HLA class II associated disease, podoconiosisMikias Negash, Menberework Chanyalew, Tigist Girma, et al.
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