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pro vyhledávání: '"Bianca M. Iperen‐Kolk"'
Autor:
Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. Wit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. Iperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Publikováno v:
Molecular geneticsgenomic medicine. 10(3)
Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal elec