Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Por um escritor misterioso
Last updated 03 setembro 2024
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Deciphering the mutational signature of congenital limb malformations: Molecular Therapy - Nucleic Acids
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Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
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Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
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Genes, Free Full-Text
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Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine
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Genetic aetiology of early infant deaths in a neonatal intensive care unit
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Rubinstein–Taybi syndrome - Wikipedia
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Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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