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Molecular Syndromology|July 22, 2010
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 ExpressionD R H de Bruijn, A H A van Dijk, R Pfundt, et al.
Clinical and Experimental Immunology|July 22, 2014
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarrayD K Bayer, C A Martinez, H S Sorte, et al.
Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.
The New England Journal of Medicine|March 17, 2016
Loss of B Cells in Patients with Heterozygous Mutations in IKAROSH S Kuehn, B Boisson, C Cunningham-Rundles, et al.
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