Casarubinstein síndrome

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

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Last updated 03 junho 2024
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Insights into genotype–phenotype correlations from CREBBP point
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Clinical exome sequencing identifies novel CREBBP variants in 18
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Cureus Whole-Exome Sequencing Identified a Novel DYRK1A Variant
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
High frequency of copy number imbalances in Rubinstein–Taybi
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Germline mosaicism in Rubinstein–Taybi syndrome - ScienceDirect
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Exon deletions of the EP300 and CREBBP genes in two children with
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