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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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
Activation of human or salmon plasminogen by human uPA or zfuPA-a or
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease
Protein-protein interaction network describes the possible interaction
A, Patient 13 at the age of 23 years. Note sloping forehead
Assay of the relative activities of the single-chain forms and the
Involvement of LRP and uPA catalytic activity in uPA-induced
Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
