Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Por um escritor misterioso
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A global map of associations between types of protein posttranslational modifications and human genetic diseases. - Abstract - Europe PMC
Enhancers: bridging the gap between gene control and human disease. - Abstract - Europe PMC
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC
Molecular characteristics of meningiomas
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC
IJMS, Free Full-Text
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
Epidemiology and Etiology of Childhood ALL
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