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

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

GTF3C5(RNA 聚合酶 III 介导的转录调节剂)的双等位基因变异可导致多系统发育障碍

Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Sarah K Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, Paige Ernste, Lauren Lulis, Addie Nesbitt, Ahmad Abou Tayoun, Christopher Gray, Meghan C Towne, Kelly Radtke, Elizabeth A Normand, Li

Expanding Genetic Counselor Roles: A Model for Global Research Development

拓展遗传咨询师的角色:全球研究发展模式

Muraresku, Colleen C; McCormick, Elizabeth M; Rockart, Lydia; Blaine Crowley, T; Asher, Stephanie; Back, Amanda; Baldino, Sarah M; Bedoukian, Emma; Britt, Allison D; Burrill, Natalie; Cacioppo, Cara; Clark, Dana Farengo; Clark, Mary Egan; Conway, Laura; Dratch, Laynie; Dubbs, Holly A; Engelhardt, Nicole M; Ginn, Natalie; Gray, Christopher; Hartman, Tiff; Hathaway, Evan R; Helbig, Katherine L; Hoffman-Andrews, Lily; Kasperski, Stefanie; Keena, Beth A; Keller, Kierstin N; Long, Jessica M; Lulis, Lauren; Lusk, Laina; McGinn, Daniel E; Mueller, Rebecca; Paul, Rache A; Pilchman, Lisa; Powers, Jacquelyn; Raible, Sarah E; Reichert, Sara; Rippert, Alyssa L; Arnold, Angela G; Ruggiero, Sarah M; Schindewolf, Erica; Sullivan, Katie Rose; Terek, Shannon; Wang, Bekah; Wells, McKenzie; Wisniewski, Natalia; Wright, Renee; Wood, Elisabeth McCarty; Woyciechowski, Stacy; Zelley, Kristin; Valverde, Kathleen D; McDonald-McGinn, Donna M

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

基因检测在确认新生儿筛查异常长链脂肪酸紊乱中的应用:一例漏诊的肉碱棕榈酰转移酶1A (CPT1A) 缺乏症

Dowsett, Leah; Lulis, Lauren; Ficicioglu, Can; Cuddapah, Sanmati