Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Identification of the genetic basis of sporadic polydactyly in

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Clinical exome sequencing identifies novel CREBBP variants in 18

Analysis of mutations within the intron20 splice donor site of

Established and emerging strategies to crack the genetic code of

New insights into genetic variant spectrum and genotype–phenotype

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Further delineation of an entity caused by CREBBP and EP300

39th Annual David W. Smith Workshop on Malformations and

PDF) Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel
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