Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
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Last updated 13 maio 2024
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
Reprogramming of the epigenome in neurodevelopmental disorders. - Abstract - Europe PMC
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC
Kabuki Syndrome-Clinical Review with Molecular Aspects. - Abstract - Europe PMC
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
Facial features of Rubinstein-Taybi syndrome
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