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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PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
Gonadotropin Therapy Once a Week for Spermatogenesis in Hypogonadotropic Hypogonadism - ScienceDirect
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places
PDF] Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting - Boycott - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
THE 59TH ANNUAL MEETING OF THE JAPANESE TERATOLOGY SOCIETY THE 13TH WORLD CONGRESS OF THE INTERNATIONAL CLEFT LIP AND PALATE FOUNDATION – CLEFT 2019‐ - 2019 - Congenital Anomalies - Wiley Online Library
Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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