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Neurology|September 27, 2013
Copy number variants are frequent in genetic generalized epilepsy with intellectual disabilitySaul A Mullen, Gemma L Carvill, Susannah Bellows, et al.
Epilepsia Open|December 22, 2023
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case reportDenis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, et al.
Clinical Genetics|December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 geneCamille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Epilepsia|February 19, 2015
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysisCorinna Hartmann, Sarah von Spiczak, Arvid Suls, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 14, 2016
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studiesMeng-Han Tsai, Pei-Wen Kuo, Candace T Myers, et al.
Tissue Engineering. Part B, Reviews|October 8, 2019
Calvarial Versus Long Bone: Implications for Tailoring Skeletal Tissue EngineeringDan Wang, James R Gilbert, Xu Zhang, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|June 30, 2004
Transforming growth factor-beta isoform expression in the perisutural tissues of craniosynostotic rabbitsElyane Poisson, James J Sciote, Richard Koepsel, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 20, 2005
VEGF improves, whereas sFlt1 inhibits, BMP2-induced bone formation and bone healing through modulation of angiogenesisHairong Peng, Arvydas Usas, Anne Olshanski, et al.
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|April 13, 2019
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plusFrancesca Bisulli, Laura Licchetta, Sara Baldassari, et al.
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