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Publications by Eriko Nishi
Exome Sequencing Identification of EP300 Mutation in a Proband With Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
Molecular Syndromology
Genetics
Related publications
First Case Report of Inherited Rubinstein-Taybi Syndrome Associated With a Novel EP300 Variant
BMC Medical Genetics
Genetics
Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome
European Journal of Human Genetics
Genetics
Rubinstein-Taybi Syndrome
Rubinstein-Taybi 2 Associated to Novel EP300 Mutations: Deepening the Clinical and Genetic Spectrum
BMC Medical Genetics
Genetics
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
American Journal of Human Genetics
Genetics
Rubinstein–Taybi Syndrome: A Pediatric Case Report
Journal of Medicine, Radiology, Pathology and Surgery
Multiple Meningiomas in a Patient With Rubinstein—Taybi Syndrome
Journal of Neurosurgery
Surgery
Neurology
Sonography for an Imperforate Anus: Approach, Timing of the Examination, and Evaluation of the Type of Imperforate Anus and Associated Anomalies
Journal of Ultrasound in Medicine
Nuclear Medicine
Radiology
Ultrasound Technology
Radiological
Imaging
Medicine
Mosaic CREBBP Mutation Causes Overlapping Clinical Features of Rubinstein–Taybi and Filippi Syndromes
European Journal of Human Genetics
Genetics
