Multi-omics characterization of developing forebrain organoids unravels the dynamic molecular events of Rett syndrome pathogenesis [0.03%]
多组学表征发育中的前脑类器官揭示雷特氏综合征发病机制的动态分子事件
Jarno Koetsier,Nasim Bahram Sangani,Ana Rita Gomes et al.
Jarno Koetsier et al.
Lifestyle intervention and cognitive outcomes in Down syndrome: a horizon 21 European Down syndrome consortium scoping review [0.03%]
关于唐氏综合症生活方式干预和认知结局的文献回顾研究报告
Eimear McGlinchey,Sarah Pape,Shahid H Zaman et al.
Eimear McGlinchey et al.
The prevalence of autism in cerebellar malformations: a systematic review and meta-analysis [0.03%]
小脑畸形中自闭症的流行率：系统回顾和荟萃分析
Douglas A Wells,Danny Jaber,Shreya Dey et al.
Douglas A Wells et al.
Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life [0.03%]
天使人综合症的诊断经历与照料者的生存质量之间的关联性研究
Jan Domaradzki,Dariusz Walkowiak
Jan Domaradzki
Altered folate metabolism disrupts auditory function from neonatal vocalizations to adult perceptual precision [0.03%]
叶酸代谢改变会从新生儿发声到成人感知精确度各个方面破坏听觉功能
Danielle Barda,Lior Dor,Hila Sapir et al.
Danielle Barda et al.
Early neurodevelopmental brain perfusion abnormalities and functional connectivity findings in infants with Prader-Willi syndrome [0.03%]
普瑞德－威利综合征婴儿的早期神经发育脑灌注异常和功能连接发现
Jennifer Boisgontier,Sarah Charpy,Graziella Pinto et al.
Jennifer Boisgontier et al.
Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons [0.03%]
人类脆性X综合征神经前体细胞和神经元中FMR1错剪接转录本
Shaima M Hourani,Kagistia Hana Utami,Sher Li Oh et al.
Shaima M Hourani et al.
Background: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of fragile X messenger ribonucleoprotein (FMRP). In most cases, this results from a CGG expansion exceeding 200 repeats in the 5' untran...
Transient visual evoked potential abnormalities in ADNP syndrome [0.03%]
ADNP综合征的视觉事件相关异常 potentials
Tess Levy,Hailey Silver,Nurit Benrey et al.
Tess Levy et al.
Cognitive deficits linked to intrinsic timescales and gray matter volume abnormalities in children with Duchenne muscular dystrophy [0.03%]
杜氏肌营养不良儿童认知缺陷与固有时间尺度及灰质体积异常有关
Xiaoyu Niu,Qin Hu,Xinyuan Zhang et al.
Xiaoyu Niu et al.
Phase 2, open-label INSPIRE trial to assess the tolerability and effectiveness of transdermal cannabidiol gel in children and adolescents with 22q11.2 deletion syndrome (ZYN2-CL-031) [0.03%]
评估透皮给药CBD凝胶在染色体22q11.2缺失综合征儿童和青少年中的耐受性和有效性的二期开放标记INSPIRE试验(ZYN2-CL-031)
Helen Heussler,Jonathan Cohen,Caroline B Buchanan et al.
Helen Heussler et al.