Rubinstein-Taybi Syndrome 1
Por um escritor misterioso
Descrição
Characteristic facial appearance with downward slant of palpebral
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Rubinstein-Taybi Syndrome 1
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology
Rubinstein-Taybi Syndrome: Child Characteristics and Parental Perception Noorwijkerhout Ina van Berckelaer-Onnes & Josette Wulffaert. - ppt download
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome - ScienceDirect
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