rubinstein taybi genereviews

  • Rubinstein-Taybi Syndrome 1

Rubinstein-Taybi Syndrome 1
  • Rubinstein-Taybi syndrome: MedlinePlus Genetics

Rubinstein-Taybi syndrome: MedlinePlus Genetics
  • The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
  • Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7

Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7
  • SciELO - Brasil - Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report

SciELO - Brasil - Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report
  • A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
  • What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS

What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS
  • Rubinstein-Taybi syndrome with agenesis of corpus callosum

Rubinstein-Taybi syndrome with agenesis of corpus callosum
  • Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
  • Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome
  • Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
  • Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf

Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
  • (PDF) Identification of de novo EP300 and PLAU variants in a

(PDF) Identification of de novo EP300 and PLAU variants in a
  • PDF) Rubinstein-Taybi syndrome in diverse populations

PDF) Rubinstein-Taybi syndrome in diverse populations
  • 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

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
  • Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect

Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
  • Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
  • Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
  • 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

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
  • Rubinstein-Taybi syndrome: principal oral and dental disorders and

Rubinstein-Taybi syndrome: principal oral and dental disorders and

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