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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Last updated 13 março 2025


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

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places

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

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

PDF) Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children

Telemedicine for Adolescent and Young Adult Long-Acting Reversible Contraception Follow-Up Care amidst a Global Pandemic - Journal of Pediatric and Adolescent Gynecology

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting - Stevens - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes - Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016
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