Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
PDF) Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
Epidemiology and Etiology of Childhood ALL
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract  - Europe PMC
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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