PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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PDF) Identical EP300 variant leading to Rubinstein–Taybi syndrome
Inborn errors of immunity underlying a susceptibility to pyogenic
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Frontiers Cancer Predisposition Syndromes and Medulloblastoma in
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Leveraging the Mendelian disorders of the epigenetic machinery to
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