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
COL4A2 mutation associated with familial porencephaly and small-vessel disease
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Zebrafish ep300 knockdown models Rubinstein Taybi Syndrome-2. (a-d)
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
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
Main clinical signs of the thirty-one Italian RSTS patients.
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
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Levels of zfuPA-a and zfuPA-b mRNAs in zebrafish tissue. Rela- tive
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome
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