Search Results - "Schrier Vergano, S."

Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors by Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A

“…Pathogenic somatic variants affecting the genes ( ) are extensively linked to the process of oncogenesis, in particular related to central nervous system…”
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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

“…Graphical key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID,…”
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Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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