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Documents Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause....

doi:10.1086/429130572 Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Jeroen H. Roelfsema,1 Stefan J. White,1

Documents THE BEHAVIOURAL AND COGNITIVE PHENOTYPE OF RUBINSTEIN-TAYBI SYNDROME

The behavioural and cognitive phenotype of Rubinstein-Taybi SyndromeRUBINSTEIN-TAYBI SYNDROME Jane Elizabeth Waite A thesis submitted to the University of Birmingham for

Documents Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Multiple pilomatricomas in twins with Rubinstein-Taybi syndromeMultiple pilomatricomas in twins with Rubinstein-Taybi syndrome, Ana Laura Andrade Bueno a,b, Maria Emilia

Documents Rubinstein-Taybi Syndrome (RTS) For Healthcare Providers

Copyright, revised May 2018; New England Genetics Collaborative / Institute on Disability www.gemssforschools.org Rubinstein-Taybi Syndrome (RTS) For Healthcare Providers

Documents Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell...

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829Aampgt;T,

Documents Rubinstein-Taybi Syndrome associated with congenital hypothyroidism and hypertrichosis

O.1. Rubinstein-Taybi Syndrome.FH10OLGU SUNUMLARI (Case Reports) Corresponding Author: Esad Köklü E-mail : [email protected] This manuscript can be downloaded

Documents Rubinstein-Taybi syndrome associated to complete vascular ring

Síndrome de Rubinstein-Taybi asociado a anillo vascular completoSíndrome de Rubinstein-Taybi asociado mesocardio ll-Vl, pulsos normales. FISH positivo para

Documents Severe persistent pulmonary hypertension in a neonate with RubinsteineTaybi syndrome accompanied by....

Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndromeAvailable online at www.sciencedirect.com Letter to the

Documents Rubinstein-Taybi syndrome

Rubinstein-Taybi syndromeRubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a caused by mutation in the CREBBP,EP300 genes or deletions occurring at short arm of chromosome

Documents Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

10803_2009_733_Article 1..9Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome Cedric Galera Æ Emmanuelle Taupiac Æ Sonia Fraisse Æ