Casarubinstein síndrome

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

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Last updated 25 janeiro 2025
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Exon deletions of the EP300 and CREBBP genes in two children with
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Insights into genotype–phenotype correlations from CREBBP point
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Cells, Free Full-Text
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Identification of de novo EP300 and PLAU variants in a patient
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Clinical exome sequencing identifies novel CREBBP variants in 18
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
PDF) Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
PDF) Clinical exome sequencing identifies novel CREBBP variants in
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Analysis of mutations within the intron20 splice donor site of
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
CBP/EP300 acetylates and stabilizes the stress-responsive Heat
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Confirmation of EP300 gene mutations as a rare cause of Rubinstein
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