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

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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation: Molecular Therapy - Nucleic Acids
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
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
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
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
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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
Layout of SplicePie. Light-gray boxes indicate the files
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
The effect of orientation of the cosmid insert. +, cosmid insert in
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
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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