Rapid Exome Sequencing in PICU Patients with New Onset Metabolic or Neurological Disorders

por Carey, Abigail S., Schacht, John P., Umandap, Christine, Fasel, David, Weng, Chunhua, Cappell, Joshua, Chung, Wendy K., Kernie, Steven G.
Publicado 2020

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

por Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G. J., Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2022