Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology
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Giuseppe Buonocore, Rodolfo Bracci, Michael Weindling - Neonatology-Springer International Publishing (2018), PDF, Neonatology
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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
Abstract Book PDF, PDF, Nucleotides
Genetic Disorder: Most Up-to-Date Encyclopedia, News & Reviews
Calaméo - Embryo and Fetal Pathology
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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Disorders of Sex Development - ScienceDirect
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
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Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes - Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016
Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
Rubinstein–Taybi syndrome - Wikipedia
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