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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.
BMC Medical Genetics|September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionBassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Neuron|October 12, 2004
Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioningTianzhi Shu, Ramses Ayala, Minh-Dang Nguyen, et al.
Orphanet Journal of Rare Diseases|May 17, 2012
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearanceBassam R Ali, Jennifer L Silhavy, Nadia A Akawi, et al.
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