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Acta orthopaedica, 02/2018, Volume 89, Issue 1, p. 113
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and... 
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2017, Volume 25, Issue 10, pp. 1126 - 1133
Journal Article
Acta Orthopaedica, ISSN 1745-3674, 01/2018, Volume 89, Issue 1, pp. 113 - 118
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and... 
UPPER-LIMB | CLASSIFICATION | DISORDERS | PHENOTYPES | ORTHOPEDICS | Lower Leg, Foot
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 12/2018, Volume 61, Issue 12, pp. 783 - 789
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 304 - 307
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 378 - 388
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 2018, Volume 27, Issue 2, pp. 46 - 48
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1394 - 1400
Journal Article
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
European Journal of Medical Genetics, ISSN 1769-7212, 09/2017, Volume 60, Issue 9, p. 465
Background Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL... 
Journal Article