Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
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| Title: | Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. |
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| Authors: | MacKay CI; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Wong K; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Demarest ST; Children's Hospital Colorado, Aurora, Colorado, USA.; Departments of Pediatrics and Neurology, University of Colorado at Denver, Aurora, Colorado, USA., Benke TA; Children's Hospital Colorado, Aurora, Colorado, USA.; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology, University of Colorado at Denver, Aurora, Colorado, USA., Downs J; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia., Leonard H; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia. |
| Source: | Clinical genetics [Clin Genet] 2021 Jan; Vol. 99 (1), pp. 157-165. Date of Electronic Publication: 2020 Oct 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.13862 |
