Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Last updated 24 fevereiro 2025
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
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Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal 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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Facial features and limb anomalies of all the patients: a Facial
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PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
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Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
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Atlas of Human Malformation Syndromes in Diverse Populations