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

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

局灶性先天性高胰岛素血症中 ABCC8 和 KCNJ11 的基因组分析和转录表达整合

Ilse Wieland, Ina Schanze, Ina Marianti Felgendreher, Winfried Barthlen, Silke Vogelgesang, Klaus Mohnike, Martin Zenker

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

NFIB 单倍体不足与智力障碍和大头畸形有关

Ina Schanze, Jens Bunt, Jonathan W C Lim, Denny Schanze, Ryan J Dean, Marielle Alders, Patricia Blanchet, Tania Attié-Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J Bridges, Megan T Cho, William B Dobyns, Dian Donnai, Jessica Douglas, Dawn L Earl, Timothy J Edwards, Laurence Fa

Genotype and phenotype spectrum of NRAS germline variants

NRAS 种系变异的基因型和表型谱

Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan