P343: Identification of a novel homozygous TMEM53 variant in a patient with extensive homozygosity: Classification challenges despite phenotypic consistency with craniotubular dysp... by Layal Abi Farraj, Saeideh Torabi Dalivandan, Naghmeh Dorrani, Deborah Krakow, Josh Deignan

Get full text

Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors by Michaela Bosakova, Sara P. Abraham, Davis Wachtell, Jennifer T. Zieba, Alexander Kot, Alexandru Nita, Aleksandra Anna Czyrek, Adolf Koudelka, Vlad-Constantin Ursachi, Zuzana Feketova, Gustavo Rico-Llanos, Katerina Svozilova, Petra Kocerova, Bohumil Fafilek, Tomas Gregor, Jana Kotaskova, Ivan Duran, Petr Vanhara, Michael Doubek, Jiri Mayer, Karel Soucek, Deborah Krakow, Pavel Krejci

Get full text

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci

Get full text