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

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

MTOR 突变与发育性脑疾病(包括巨脑畸形、局灶性皮质发育不良和色素镶嵌症)的关联

Mirzaa, Ghayda M; Campbell, Catarina D; Solovieff, Nadia; Goold, Carleton; Jansen, Laura A; Menon, Suchithra; Timms, Andrew E; Conti, Valerio; Biag, Jonathan D; Adams, Carissa; Boyle, Evan August; Collins, Sarah; Ishak, Gisele; Poliachik, Sandra; Girisha, Katta M; Yeung, Kit San; Chung, Brian Hon Yin; Rahikkala, Elisa; Gunter, Sonya A; McDaniel, Sharon S; Macmurdo, Colleen Forsyth; Bernstein, Jonathan A; Martin, Beth; Leary, Rebecca; Mahan, Scott; Liu, Shanming; Weaver, Molly; Doerschner, Michael; Jhangiani, Shalini; Muzny, Donna M; Boerwinkle, Eric; Gibbs, Richard A; Lupski, James R; Shendure, Jay; Saneto, Russell P; Novotny, Edward J; Wilson, Christopher J; Sellers, William R; Morrissey, Michael; Hevner, Robert F; Ojemann, Jeffrey G; Guerrini, Renzo; Murphy, Leon O; Winckler, Wendy; Dobyns, William B

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

对环侧裂多小脑回畸形中磷脂酰肌醇-3-激酶调节亚基PIK3R2突变的特征分析:一项新一代测序研究

Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harris, Catharine; Goetsch, Allison; Martin, Beth; Boyle, Evan August; Parrini, Elena; Mei, Davide; Tattini, Lorenzo; Slavotinek, Anne; Blair, Ed; Barnett, Christopher; Shendure, Jay; Chelly, Jamel; Dobyns, William B; Guerrini, Renzo