日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The ALPL gene variant project: results of the first 100 reclassified variants

ALPL基因变异项目:首批100个重新分类变异的结果

Mariam R Farman ,Theodora Malli ,Catherine Rehder ,Gerald Webersinke ,Cheryl Rockman-Greenberg ,Kathryn Dahir ,Gabriel Á Martos-Moreno ,Agnès Linglart ,Keiichi Ozono ,Lothar Seefried ,Guillermo Del Angel ,Francesca Barbazza ,Sara Shojaei ,Jessica Ebner-Jahn ,Florian Högler ,Erica B Nading ,Erin Huggins ,Eric T Rush ,Ahmed El-Gazzar ,Josephine T Tauer ,Priya S Kishnani ,Wolfgang Högler

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

GRK2 突变会损害 Hedgehog 和经典 Wnt 信号,从而导致 Jeune 综合征

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