Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
about
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeCharacterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.Rubinstein-Taybi Syndrome and Epigenetic Alterations.Epigenetic Etiology of Intellectual Disability.
P2860
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P2860
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
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2014年論文
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2014年论文
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2014年论文
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2014年论文
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name
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@en
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@nl
type
label
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@en
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@nl
prefLabel
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@en
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@nl
P2093
P2860
P356
P1433
P1476
Insights into genotype-phenoty ...... stein-Taybi syndrome patients.
@en
P2093
A Ficcadenti
A Selicorni
F Bedeschi
L Spaccini
P2860
P304
P356
10.1111/CGE.12537
P577
2014-11-12T00:00:00Z