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

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

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing

通过面向消费者的基因检测发现表型为女性的XY性腺发育不全

Kim, Ahlee; Abell, Katherine; Johnson, Jodie; Cizek, Stephanie; Breech, Lesley; Ernst, Michelle M; Hopkin, Robert J; Kennedy, Kimberly; Stanek, Jerzy; Strine, Andrew C; Rutter, Meilan M