rubinstein taybi genereviews
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Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
14 maio 2024 -
Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
14 maio 2024 -
Silver Russell Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
14 maio 2024 -
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
14 maio 2024 -
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
14 maio 2024 -
Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf
14 maio 2024 -
JCM, Free Full-Text
14 maio 2024 -
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect
14 maio 2024 -
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
14 maio 2024 -
Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology
14 maio 2024 -
Rubinstein-Taybi Syndrome
14 maio 2024 -
Legius Syndrome - an overview
14 maio 2024 -
Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
14 maio 2024 -
Genes, Free Full-Text
14 maio 2024 -
Forgotten Diseases Research Foundation
14 maio 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
14 maio 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping
14 maio 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
14 maio 2024 -
Rubinstein-Taybi syndrome: principal oral and dental disorders and
14 maio 2024 -
Rubinstein-Taybi syndrome (RTS)
14 maio 2024