Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder by Yuan Tian, Hui Qiao, KathrynAnn Odamah, Ling-Qiang Zhu, Heng-Ye Man

Subjects: “…Human genetics…”
Get full text

Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia by Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D’Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt

Subjects: Get full text

Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

Subjects: Get full text

A Review of Mendelian Randomization: Assumptions, Methods, and Application to Obesity-Related Diseases by Seungjae Lee, Woojoo Lee

Subjects: Get full text

Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

Subjects: Get full text