PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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Last updated 18 abril 2025


Prevalence of Immunological Defects in a Cohort of 97 Rubinstein

Genetic Syndromes with Evidence of Immune Deficiency - ScienceDirect

Leveraging the Mendelian disorders of the epigenetic machinery to

Human genetics and molecular genomics of Chiari malformation type

Leveraging the Mendelian disorders of the epigenetic machinery to

High frequency of copy number imbalances in Rubinstein–Taybi

Identification of 22q11.2 deletion in a patient with schizophrenia

Primary immunodeficiency‐related genes in neonatal intensive care

PDF) Rubinstein-Taybi Syndrome: A Case Report

PDF) Prevalence of Immunological Defects in a Cohort of 97

Novel heterozygous variants in the EP300 gene cause Rubinstein
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