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Journal of Child Neurology|December 21, 2004
Autism in several members of a family with generalized epilepsy with febrile seizures plusTracy J Dixon-Salazar, Lesley C Keeler, Doris A Trauner, et al.Journal of Child Neurology|August 4, 2012
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case reportAriana Kariminejad, Farid Radmanesh, Ali-Reza Rezayi, et al.The Journal of Biological Chemistry|December 4, 2015
Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin ActivitySu Jin Ham, Soo Young Lee, Saera Song, et al.The Turkish Journal of Pediatrics|December 25, 2015
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a familyHülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, et al.Nature Neuroscience|May 16, 2006
Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrainHiroyuki Koizumi, Holden Higginbotham, Tiffany Poon, et al.Gene|February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephalySamira Ismail, Ashleigh E Schaffer, Rasim O Rosti, et al.Journal of Child Neurology|May 4, 2004
Neuroepithelial cysts in a patient with Joubert syndrome plus renal cystsSarah E Marsh, Padraic Grattan-Smith, John Pereira, et al.Biorxiv : the Preprint Server for Biology|November 24, 2025
Direct identification of de novo mobile element insertions from single molecule sequencing of human spermStacy Li, Kenneth Aston, Joseph G Gleeson, et al.Trends in Genetics : TIG|March 18, 2026
De novo mutations and environmental modifiers: lessons from neural tube defectsHong-Yu Li, Yuying Shen, Keng Ioi Vong, et al.Differentiation; Research in Biological Diversity|March 12, 2014
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cellsSveva Romani, Barbara Illi, Roberta De Mori, et al.Pageof 31