A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
纤毛功能障碍在 16p11.2 600 kb BP4-BP5 病理中的潜在作用
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.04.002
Eugenia Migliavacca ,Christelle Golzio ,Katrin Männik ,Ian Blumenthal ,Edwin C Oh ,Louise Harewood ,Jack A Kosmicki ,Maria Nicla Loviglio ,Giuliana Giannuzzi ,Loyse Hippolyte ,Anne M Maillard ,Ali Abdullah Alfaiz ,Joris Andrieux ,James F Gusella ,Mark J Daly ,Jacques S Beckmann ,Sébastien Jacquemont ,Michael E Talkowski ,Nicholas Katsanis ,Alexandre Reymond