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

Changes in nascent chromatin structure regulate activation of the pro-fibrotic transcriptome and myofibroblast emergence in organ fibrosis

新生染色质结构的改变调节促纤维化转录组的激活和器官纤维化中肌成纤维细胞的出现

Morgan D Basta ,Svetlana Petruk ,Ross Summer ,Joel Rosenbloom ,Peter J Wermuth ,Edward Macarak ,Alex V Levin ,Alexander Mazo ,Janice L Walker

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

眼部发育障碍中显性和隐性 FOXE3 等位基因的综合表型和功能分析

Linda M Reis, Elena A Sorokina, Lubica Dudakova, Jana Moravikova, Pavlina Skalicka, Frantisek Malinka, Sarah E Seese, Samuel Thompson, Tanya Bardakjian, Jenina Capasso, William Allen, Tom Glaser, Alex V Levin, Adele Schneider, Ayesha Khan, Petra Liskova, Elena V Semina1

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

海姆勒综合征中的 PEX1 和 PEX6 变异谱

Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell, Chris F Inglehearn

Whole exome sequence analysis of Peters anomaly

Peters 异常的全外显子组序列分析

Eric Weh, Linda M Reis, Hannah C Happ, Alex V Levin, Patricia G Wheeler, Karen L David, Erin Carney, Brad Angle, Natalie Hauser, Elena V Semina

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

波托基-沙弗综合征区域的PHF21A基因易位破坏与智力障碍和颅面畸形有关。

Hyung-Goo Kim ,Hyun-Taek Kim, Natalia T Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V Levin, Bernd F Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H Elsea, Ethylin Wang Jabs, Marcy E MacDonald, David J Harris, Bradley J Quade, Hans-Hilger Ropers, Lisa G Shaffer, Kerstin Kutsche, Lawrence C Layman, Niels Tommerup, Vera M Kalscheuer, Yang Shi, Cynthia C Morton, Cheol-Hee Kim, James F Gusella