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Human Genomics|December 10, 2025
Recurrent somatic copy number alterations in resected cerebral cavernous malformationsAndrew K Ressler, Evon Debose-Scarlett, Amanda Fuenzalida, et al.
American Journal of Medical Genetics. Part A|June 27, 2017
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathyBenjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|July 11, 2009
Use of quantitative EEG in infants with port-wine birthmark to assess for Sturge-Weber brain involvementJoshua B Ewen, Eric H Kossoff, Nathan E Crone, et al.
Orphanet Journal of Rare Diseases|September 4, 2021
Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformationsSarah E Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injuryIkeoluwa A Osei-Owusu, Alexis L Norris, Anya T Joynt, et al.
Schizophrenia Research|June 18, 2019
The transcriptome landscape associated with Disrupted-in-Schizophrenia-1 locus impairment in early development and adulthoodKun Yang, Mari A Kondo, Hanna Jaaro-Peled, et al.
Translational Oncology|April 17, 2016
Microarray-Based Phospho-Proteomic Profiling of Complex Biological SystemsC Rory Goodwin, Crystal L Woodard, Xin Zhou, et al.
Genome Biology|January 20, 2006
Primary and secondary transcriptional effects in the developing human Down syndrome brain and heartRong Mao, Xiaowen Wang, Edward L Spitznagel, et al.
Human Molecular Genetics|October 14, 2010
A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human diseaseDavid A McDonald, Robert Shenkar, Changbin Shi, et al.
Neurogenetics|July 13, 2004
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutationsIngrid K Svenson, Mark T Kloos, P Craig Gaskell, et al.
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