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

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

通过对人类节段性三体进行高分辨率分析揭示唐氏综合征表型的遗传结构

Korbel, Jan O; Tirosh-Wagner, Tal; Urban, Alexander Eckehart; Chen, Xiao-Ning; Kasowski, Maya; Dai, Li; Grubert, Fabian; Erdman, Chandra; Gao, Michael C; Lange, Ken; Sobel, Eric M; Barlow, Gillian M; Aylsworth, Arthur S; Carpenter, Nancy J; Clark, Robin Dawn; Cohen, Monika Y; Doran, Eric; Falik-Zaccai, Tzipora; Lewin, Susan O; Lott, Ira T; McGillivray, Barbara C; Moeschler, John B; Pettenati, Mark J; Pueschel, Siegfried M; Rao, Kathleen W; Shaffer, Lisa G; Shohat, Mordechai; Van Riper, Alexander J; Warburton, Dorothy; Weissman, Sherman; Gerstein, Mark B; Snyder, Michael; Korenberg, Julie R

FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing

FG综合征,一种X连锁多发性先天性异常综合征:临床表型及诊断检测流程

Clark, Robin Dawn; Graham, John M Jr; Friez, Michael J; Hoo, Joe J; Jones, Kenneth Lyons; McKeown, Carole; Moeschler, John B; Raymond, F Lucy; Rogers, R Curtis; Schwartz, Charles E; Battaglia, Agatino; Lyons, Michael J; Stevenson, Roger E