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

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

基因组尸检以确定流产和围产期死亡的根本原因

Alicia B Byrne #, Peer Arts #, Thuong T Ha #, Karin S Kassahn, Lynn S Pais, Anne O'Donnell-Luria; Broad Institute Center for Mendelian Genomics; Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David M Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen; Genomic Autopsy Study R

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders

将 NUP85 突变的表型从肾病综合征扩展到原发性常染色体隐性小头畸形和塞克尔综合征谱系障碍

Ethiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, Thuong Ha, Yuval Salzberg, Boris Fichtman, Lena Luise-Becker, Nuno Martins, Sylvie Picker-Minh, Paraskevi Bessa, Peer Arts, Matilda R Jackson, Ajay Taranath, Benjamin Kamien, Christopher Barnett, Na Li, Victor Tarabykin, Gisela Stoltenburg-Di

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA

通过 cDNA 多重靶向重测序定量差异基因表达

Peer Arts, Jori van der Raadt, Sebastianus H C van Gestel, Marloes Steehouwer, Jay Shendure, Alexander Hoischen, Cornelis A Albers