Clinical Genetics
Article . 2013 . Peer-reviewed
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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;
pmid: 22591219
New CBP mutations in Brazilian patients with Rubinstein–Taybi syndrome
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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
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
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
citations
Citations provided by BIP!
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).
popularity
Popularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
3
Average
Average
Average
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Fields of Science