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American Journal of Physiology - Regulatory Integrative and Comparative Physiology, ISSN 0363-6119, 05/2017, Volume 312, Issue 5, pp. R689 - R701
Journal Article
Brain, ISSN 0006-8950, 10/2015, Volume 138, p. 2847
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 04/2014, Volume 9, Issue 1, pp. 52 - 52
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2016, Volume 24, Issue 4, pp. 619 - 622
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 922 - 928
Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated... 
Journal Article
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
Brain: a journal of neurology, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2847 - 2858
Journal Article