Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients
GTG banding karyotype Download Scientific Diagram
38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting - Stevens - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China - Zhu - 2021 - Clinical & Translational Immunology - Wiley Online Library
The Smith-Lemli-Opitz syndrome
Common presentations and diagnostic approaches - ScienceDirect
SciELO - Brasil - Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
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