rubinstein taybi genereviews
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(PDF) Identification of de novo EP300 and PLAU variants in a
17 maio 2024 -
JCM, Free Full-Text
17 maio 2024 -
Identification of de novo EP300 and PLAU variants in a patient
17 maio 2024 -
Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
17 maio 2024 -
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
17 maio 2024 -
Rubinstein-Taybi Syndrome
17 maio 2024 -
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
17 maio 2024 -
Expanding the phenotype associated to KMT2A variants: overlapping
17 maio 2024 -
Genes, Free Full-Text
17 maio 2024 -
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
17 maio 2024 -
Rubinstein-Taybi syndrome (RTS)
17 maio 2024 -
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
17 maio 2024 -
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
17 maio 2024 -
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect
17 maio 2024 -
Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology
17 maio 2024 -
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf
17 maio 2024 -
Legius Syndrome - an overview
17 maio 2024 -
Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
17 maio 2024 -
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
17 maio 2024 -
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
17 maio 2024