Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

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Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Malformations of Cortical Development
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Comparison of CREBBP expression level between maternal and fetal sides
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Nervous system defects in the ep300 morphant zebrafish reveals new
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
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
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Protein-protein interaction network describes the possible interaction
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Activation of human or salmon plasminogen by human uPA or zfuPA-a or
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
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
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