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European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Developmental Cell|July 9, 2004
Semaphorin-plexin signaling guides patterning of the developing vasculatureJesús Torres-Vázquez, Aaron D Gitler, Sherri D Fraser, et al.
American Journal of Human Genetics|May 26, 2009
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndromeJoy Armistead, Sunita Khatkar, Britta Meyer, et al.
Life Science Alliance|March 13, 2019
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesTian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences|October 11, 2023
Analysis of treatment cost differences in patients undergoing femoral versus radial access in outpatient diagnostic cerebral arteriogramsMatthew C Findlay, Cordell M Baker, Sarah Childs, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophyJaya Punetha, Ender Karaca, Alper Gezdirici, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 2, 2015
Zac1 Regulates the Differentiation and Migration of Neocortical Neurons via Pac1Lata Adnani, Lisa Marie Langevin, Elodie Gautier, et al.
Development (Cambridge, England)|June 7, 2002
Disruption of acvrl1 increases endothelial cell number in zebrafish cranial vesselsBeth L Roman, Van N Pham, Nathan D Lawson, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Ryan E Lamont, Jc Loredo-Osti, Nicole M Roslin, et al.
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