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

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

杂合 MAP3K20 变异可导致外胚层发育不良、颅缝早闭、神经性听力损失和肢体异常

Daniel Brooks #, Elizabeth Burke #, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu

Clinical utility of genomic sequencing: a measurement toolkit

基因组测序的临床应用:测量工具包

Hayeems, Robin Z; Dimmock, David; Bick, David; Belmont, John W; Green, Robert C; Lanpher, Brendan; Jobanputra, Vaidehi; Mendoza, Roberto; Kulkarni, Shashi; Grove, Megan E; Taylor, Stacie L; Ashley, Euan

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

谷氨酰-tRNAGln 酰胺转移酶亚基的致病变异可导致致命的线粒体心肌病

Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G J Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Fe

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

TBX2 的功能变异与心血管和骨骼发育障碍综合征有关

Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen L Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, E