A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F. Nelson, William H. Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A. Pouladi, Mohammed Al-Raqad, Bruno Reversade

研究成果: Article査読

35 被引用数 (Scopus)

フィンガープリント

「A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

Biochemistry, Genetics and Molecular Biology

Neuroscience