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

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

五名患有精神表型和发育迟缓的个体存在IGF1受体基因的基因内缺失

Witsch, Jens; Szafranski, Przemyslaw; Chen, Chun-An; Immken, LaDonna; Simpson Patel, Gayle; Hixson, Patricia; Cheung, Sau Wai; Stankiewicz, Pawel; Schaaf, Christian P

Detection of clinically relevant exonic copy-number changes by array CGH

利用阵列比较基因组杂交技术检测具有临床意义的外显子拷贝数变异

Boone, Philip M; Bacino, Carlos A; Shaw, Chad A; Eng, Patricia A; Hixson, Patricia M; Pursley, Amber N; Kang, Sung-Hae L; Yang, Yaping; Wiszniewska, Joanna; Nowakowska, Beata A; del Gaudio, Daniela; Xia, Zhilian; Simpson-Patel, Gayle; Immken, LaDonna L; Gibson, James B; Tsai, Anne C-H; Bowers, Jennifer A; Reimschisel, Tyler E; Schaaf, Christian P; Potocki, Lorraine; Scaglia, Fernando; Gambin, Tomasz; Sykulski, Maciej; Bartnik, Magdalena; Derwinska, Katarzyna; Wisniowiecka-Kowalnik, Barbara; Lalani, Seema R; Probst, Frank J; Bi, Weimin; Beaudet, Arthur L; Patel, Ankita; Lupski, James R; Cheung, Sau Wai; Stankiewicz, Pawel