Frontiers Case report: A preterm infant with rubinstein-taybi
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Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
PDF) Genetic heterogeneity in corpus callosum agenesis
Frontiers Case Report: Treatment of Extremely Preterm Infants With Birthweight Below 300 g: Case Series
Children With Disabilities, PDF, Preterm Birth
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
Mutation spectrum of CREBBP and EP300 in RSTS individuals referenced in
Frontiers Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment
Physical features in RSTS patients. (A) Evolution of the phenotype from
Frontiers in Pediatrics
Structure of CBP and p300. The CBP protein is composed of 2442 amino
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract - Connaughton - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
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