Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
| Autor: | H.G. Brunner, B W M van Bon, A.P.M. de Brouwer, N. de Leeuw, Claudia A. L. Ruivenkamp, Carlo Marcelis, A C J Gijsbers, Joris A. Veltman, B. B. A. De Vries, Alexander Hoischen, Jayne Y. Hehir-Kwa |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Genetics
Microcephaly DYRK1A Primary microcephaly Heterozygote advantage Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3] Biology medicine.disease Phenotype Genomic disorders and inherited multi-system disorders [IGMD 3] Central nervous system disease Developmental disorder medicine Congenital disease Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] Genetics (clinical) |
| Zdroj: | Clinical Genetics, 79, 296-9 Clinical Genetics, 79, 3, pp. 296-9 |
| ISSN: | 0009-9163 |
| Popis: | Contains fulltext : 97061.pdf (Publisher’s version ) (Closed access) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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