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
Por um escritor misterioso
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Gonadotropin Therapy Once a Week for Spermatogenesis in Hypogonadotropic Hypogonadism - ScienceDirect
Epigenetic Etiology of Intellectual Disability
Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places
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
PDF) Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches
Dr. Lauryn Roth, MD – Salt Lake City, UT
Genes, Free Full-Text
Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes - Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016
SPR 2013 SpringerLink
PDF) AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES AMILD ROBERTS SYNDROME PHENOTYPE, AND BRINGSINTO FOCUS PHENOTYPIC OVERLAPS ACROSS THELYSINE ACETYL TRANSFERASE SYNDROMES
From Rare Diseases, Genetic Disorders To Orphan Drugs, PDF, Genetic Disorder
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
