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

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

扩大基因组测序的可及性:来自 CincyKidsSeq 研究的自我推荐参与者获得更高的诊断率及其对混合遗传服务模式的启示

Theobald, Kristin; Shillington, Amelle; Jackson, Farrah; Lopes, Jaime; Brewer, Casey J; Dawson, Brian; Wu, Gang; Denton, James; Pauciulo, Mike; Zhang, Xue; Slavotinek, Anne

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

下颌面骨发育不全伴小头畸形:通过父母调查扩展表型

Abell Katherine, Hopkin Robert J, Bender Patricia L, Jackson Farrah, Smallwood Kelly, Sullivan Bonnie, Stottmann Rolf W, Saal Howard M, Weaver K Nicole