rubinstein taybi genereviews
Mais recente
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PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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 -
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
01 junho 2024 -
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
01 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping
01 junho 2024 -
(PDF) Identification of de novo EP300 and PLAU variants in a
01 junho 2024 -
Genes, Free Full-Text
01 junho 2024 -
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome
01 junho 2024 -
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect
01 junho 2024 -
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
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 -
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
01 junho 2024 -
genereviews.org - GeneReviews® - NCBI Bookshelf
01 junho 2024 -
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update
01 junho 2024 -
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
01 junho 2024 -
Frontiers Behavioral and neuropsychiatric challenges across the
01 junho 2024 -
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
01 junho 2024 -
Rubinstein-Taybi Syndrome
01 junho 2024 -
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
01 junho 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
01 junho 2024
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