1. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. (14th August 2018) Authors: Weterman, Marian A J; Kuo, Molly; Kenter, Susan B; Gordillo, Sara; Karjosukarso, Dyah W; Takase, Ryuichi; Bronk, Marieke; Oprescu, Stephanie; van Ruissen, Fred; Witteveen, Ron J W; Bienfait, Henriette M E; Breuning, Martijn; Verhamme, Camiel; Hou, Ya-Ming; de Visser, Marianne; Antonellis, Anthony... Journal: Human molecular genetics Issue: Volume 27:Number 23(2018:Dec. 01) Page Start: 4036 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. (14th August 2018) Authors: Weterman, Marian A J; Kuo, Molly; Kenter, Susan B; Gordillo, Sara; Karjosukarso, Dyah W; Takase, Ryuichi; Bronk, Marieke; Oprescu, Stephanie; van Ruissen, Fred; Witteveen, Ron J W; Bienfait, Henriette M E; Breuning, Martijn; Verhamme, Camiel; Hou, Ya-Ming; de Visser, Marianne; Antonellis, Anthony... Journal: Human molecular genetics Issue: Volume 27:Number 23(2018:Dec. 01) Page Start: 4036 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗