Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. - Abstract - Europe PMC
Congenital basis of posterior fossa anomalies. - Abstract - Europe PMC
Emss 68524
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. - Abstract - Europe PMC
Rubinstein Syndrome - an overview
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.
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. - Abstract - Europe PMC
Rubinstein–Taybi syndrome - Wikipedia
Emss 68524
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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