rubinstein taybi genereviews
Mais recente
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
01 junho 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo
01 junho 2024 -
PDF) Rubinstein-Taybi syndrome in diverse populations
01 junho 2024 -
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
01 junho 2024 -
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome
01 junho 2024 -
Rubinstein–Taybi syndrome - Wikipedia
01 junho 2024 -
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS
01 junho 2024 -
Floating-Harbor syndrome: MedlinePlus Genetics
01 junho 2024 -
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management
01 junho 2024 -
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
01 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
01 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping
01 junho 2024 -
Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7
01 junho 2024 -
genereviews.org - GeneReviews® - NCBI Bookshelf
01 junho 2024 -
Forgotten Diseases Research Foundation
01 junho 2024 -
Rubinstein-Taybi Syndrome
01 junho 2024 -
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
01 junho 2024 -
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
01 junho 2024 -
Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
01 junho 2024 -
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
01 junho 2024