Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Por um escritor misterioso
Last updated 17 julho 2024
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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
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Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
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PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
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A 6.5-year-old girl showing RSTS phenotype. A, Typical facial
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Inborn errors of immunity underlying a susceptibility to pyogenic infections: from innate immune system deficiency to complex phenotypes - ScienceDirect
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
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Genes, Free Full-Text
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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine
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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
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PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
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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
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