Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Por um escritor misterioso
Descrição
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
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. - Abstract - Europe PMC
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Congenital basis of posterior fossa anomalies. - Abstract - Europe PMC
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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
Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Rubinstein-Taybi syndrome: MedlinePlus Genetics
de
por adulto (o preço varia de acordo com o tamanho do grupo)
