Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
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Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
Cells, Free Full-Text
Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
Inborn errors of immunity underlying a susceptibility to pyogenic infections: from innate immune system deficiency to complex phenotypes - ScienceDirect
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