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Publications by Rutger A Nievelstein
Mosaic CREBBP Mutation Causes Overlapping Clinical Features of Rubinstein–Taybi and Filippi Syndromes
European Journal of Human Genetics
Genetics
Related publications
Rubinstein-Taybi Syndrome
Rubinstein–Taybi Syndrome: A Pediatric Case Report
Journal of Medicine, Radiology, Pathology and Surgery
Rubinstein-Taybi 2 Associated to Novel EP300 Mutations: Deepening the Clinical and Genetic Spectrum
BMC Medical Genetics
Genetics
Multiple Meningiomas in a Patient With Rubinstein—Taybi Syndrome
Journal of Neurosurgery
Surgery
Neurology
Atherothrombosis and Atrial Fibrillation: Important and Often Overlapping Clinical Syndromes
Thrombosis and Haemostasis
Hematology
Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome
European Journal of Human Genetics
Genetics
Anestesia Em Paciente Com Síndrome De Rubinstein-Taybi: Relato De Caso
Revista Brasileira de Anestesiologia
Anesthesiology
Pain Medicine
Síndrome De Rubinstein-Taybi: Anomalias Físicas, Manifestações Clínicas E Avaliação Auditiva
Revista Brasileira de Otorrinolaringologia
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
