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Journal of Cardiovascular Electrophysiology|March 17, 2020
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptomsAlexander Moscu-Gregor, Christoph Marschall, Carsten Müntjes, et al.Neuropediatrics|October 21, 2020
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size MattersEva-Katharina Willimsky, Anna Munzig, Karin Mayer, et al.Genome Research|March 11, 2008
Mapping translocation breakpoints by next-generation sequencingWei Chen, Vera Kalscheuer, Andreas Tzschach, et al.American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.Nature|September 23, 2011
Deep sequencing reveals 50 novel genes for recessive cognitive disordersHossein Najmabadi, Hao Hu, Masoud Garshasbi, et al.Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.Pageof 2