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

Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model

小鼠 Pax6 神经发育疾病模型中脑突触组结构的发育破坏和恢复

Laura Tomas-Roca, Zhen Qiu, Erik Fransén, Ragini Gokhale, Edita Bulovaite, David J Price, Noboru H Komiyama, Seth G N Grant

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

更正:对巴基斯坦近亲结婚家庭进行外显子组测序,发现了30个与隐性智力障碍相关的新候选基因

Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

对巴基斯坦近亲结婚家庭的外显子组测序发现了30个与隐性智力障碍相关的新候选基因

Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

PLXND1 和 REV3L 的新生突变导致莫比乌斯综合征

Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, Manvendra K Singh, Jonathan A Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P M de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner