(PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Por um escritor misterioso
Descrição
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome
Genes, Free Full-Text
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
PDF) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Malformations of Cortical Development
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
Mutations truncating the EP300 acetylase in human cancers
COL4A2 mutation associated with familial porencephaly and small-vessel disease
PDF) 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.3829A > T, p.(Lys1277*)
(PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
de
por adulto (o preço varia de acordo com o tamanho do grupo)
