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PL o S Genetics (Online), ISSN 1553-7390, 05/2017, Volume 13, Issue 5, p. e1006809
textabstractIntegrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and... 
RNA-POLYMERASE-II | NEURONAL DEVELOPMENT | MALFORMATIONS | PROTEIN | SPLICING REGULATION | EMBRYO | 3' END FORMATION | U4ATAC SNRNA | GENETICS & HEREDITY | GENE-EXPRESSION | CORTICAL DEVELOPMENT | Wnt1 Protein | Alternative Splicing | Humans | Transcriptome | Male | Developmental Disabilities - genetics | Brain - growth & development | Mutation, Missense | RNA, Messenger - metabolism | Protein Subunits - metabolism | Brain - metabolism | Gene Deletion | HEK293 Cells | Adult | Female | Child | Developmental Disabilities - diagnosis | Fibroblasts - metabolism | Protein Subunits - genetics | RNA, Messenger - genetics | Cells, Cultured | Syndrome | Pedigree | Brain - pathology | Heterozygote | HeLa Cells | Mutation | Brain | Care and treatment | Research | Gene mutations | Abnormalities | RNA polymerases | Pediatrics | Alternative splicing | Transcription | Leukocyte migration | Gene regulation | Disorders | Colleges & universities | Editing | Genomes | Biochemistry | Gene deletion | Neurodevelopmental disorders | DNA-directed RNA polymerase | Delay | Defects | Proteins | Control | Missense mutation | Clonal deletion | Deletion | RNA processing | Bioinformatics | Ventricle (lateral) | Siblings | Maturation | Cortex | RNA polymerase | Gene expression | Ribonucleic acid--RNA | Patients | Medicine | Polymerase | Brain research | Cellular biology | Genetic engineering | Molecular biology | Differentiation | Compatibility | Retinoic acid | Cell migration | RNA polymerase II | Integrity | RNA | Ribonucleic acid
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 01/2016, Volume 213, Issue 7, pp. 1163 - 1174
textabstractPseudo-TOR CH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features... 
MEDICINE, RESEARCH & EXPERIMENTAL | AICARDI-GOUTIERES SYNDROME | DISEASE | GUIDELINES | INFECTION-LIKE SYNDROME | MUTATIONS | IMMUNOLOGY | SEQUENCING DATA | BRAIN
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2376 - 2384
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 02/2018, Volume 26, Issue 2, pp. 210 - 219
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 12/2018, Volume 61, Issue 12, pp. 783 - 789
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 06/2016, Volume 213, Issue 7, pp. 1163 - 1174
Journal Article
Circulation, ISSN 0009-7322, 11/2018, Volume 138, Issue Suppl_1 Suppl 1, pp. A12239 - A12239
Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality.... 
Journal Article
PLoS Genetics, ISSN 1553-7390, 2017, Volume 13, Issue 5
Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription... 
Journal Article