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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Clinical Geneticsarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Clinical Genetics
Article . 2013 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
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New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome

Authors: K T Suzuki; Carlos Alberto Moreira-Filho; Leuridan Cavalcante Torres; B da Costa Aguiar Alves; Sofia Mizuho Miura Sugayama; Magda Carneiro-Sampaio;

New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome

Keywords

Adult, Male, Rubinstein-Taybi Syndrome, Adolescent, Base Sequence, DNA Mutational Analysis, Mutation, Missense, Infant, CREB-Binding Protein, Polymorphism, Single Nucleotide, Codon, Nonsense, Child, Preschool, Chromosomes, Human, Pair 2, Mutation, Humans, Female, Child, Brazil, Chromosomes, Human, Pair 16, In Situ Hybridization, Fluorescence

  • BIP!
    Impact byBIP!
    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    3
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average