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

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG)

GRCh37 到 GRCh38 参考基因组过渡的实验室注意事项:美国医学遗传学和基因组学学会 (ACMG) 实验室质量保证公告

Aggarwal, Vimla S; Guha, Saurav; Lebo, Matthew S; Retterer, Kyle; Scharfe, Curt; Bean, Lora J H

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

临床实时基因组测序助力解决局灶节段性肾小球硬化症合并多发性恶性肿瘤患儿的复杂临床表现

Jain, Namrata G; Ahram, Dina F; Marasa, Maddalena; Rehman, Ateeq U; May, Halie J; Zacharoulis, Stergios; Revah-Politi, Anya; Florido, Michelle E; Whittemore, Gregory B; Aggarwal, Vimla S; Hargus, Gunnar; Anyane-Yeboa, Kwame; D'Agati, Vivette D; Lin, Fangming; Jobanputra, Vaidehi; Sanna-Cherchi, Simone

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology

成人肾脏病患者基因检测结果反馈试点研究

Nestor, Jordan G; Marasa, Maddalena; Milo-Rasouly, Hila; Groopman, Emily E; Husain, S Ali; Mohan, Sumit; Fernandez, Hilda; Aggarwal, Vimla S; Ahram, Dina F; Vena, Natalie; Bogyo, Kelsie; Bomback, Andrew S; Radhakrishnan, Jai; Appel, Gerald B; Ahn, Wooin; Cohen, David J; Canetta, Pietro A; Dube, Geoffrey K; Rao, Maya K; Morris, Heather K; Crew, Russell J; Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Gharavi, Ali G

Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis

Tbx1 和 Brn4 在耳蜗形态发生过程中调控视黄酸代谢基因

Braunstein, Evan M; Monks, Dennis C; Aggarwal, Vimla S; Arnold, Jelena S; Morrow, Bernice E