| 1 |
Primary immunodeficiency in a patient with Kabuki syndrome |
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| | I. S. Dolgopolov, L. Yu. Grivtsova, O. K. Ustinova, M. Yu. Rykov | | | Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023; 67(6): 104 | | | [Pubmed] [Google Scholar] [DOI] | | | 2 |
From Genotype to Phenotype—A Review of Kabuki Syndrome |
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| | Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer | | | Genes. 2022; 13(10): 1761 | | | [Pubmed] [Google Scholar] [DOI] | | | 3 |
Kabuki Syndrome—Clinical Review with Molecular Aspects |
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| | Snir Boniel, Krystyna Szymanska, Robert Smigiel, Krzysztof Szczaluba | | | Genes. 2021; 12(4): 468 | | | [Pubmed] [Google Scholar] [DOI] | | | 4 |
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report |
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| | Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu | | | BMC Medical Genetics. 2020; 21(1) | | | [Pubmed] [Google Scholar] [DOI] | | | 5 |
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations |
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