Casarubinstein taybi omim

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

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Last updated 24 fevereiro 2025
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Systematic Analysis of Splice-Site-Creating Mutations in Cancer - ScienceDirect
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Research articles European Journal of Human Genetics
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Exon trapping using DMD cosmids. (A) The genomic content of cosmids
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Martine J. van Belzen's research works Leiden University Medical Centre, Leiden (LUMC) and other places
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Martijn H Breuning's research works Leiden University Medical Centre, Leiden (LUMC) and other places
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Short Report European Journal of Human Genetics
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Arie van Haeringen's research works Leiden University, Leiden (LEI) and other places
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Rahikkala ELISA, Oulu University Hospital, Oulu, Department of Clinical Genetics
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