Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Brooke E. Spangler"'
Autor:
M.J. Guillen Sacoto, Kyle Retterer, Rashmi Chikarmane, Berivan Baskin, Barbara K. Burton, Emma Bedoukian, S Hopkins, Brooke E. Spangler, Heather M. McLaughlin, Wendy K. Chung, Fran Kendall, Matthew A. Deardorff, David Kronn, M. T. Cho, Marie T. McDonald, Rebecca Willaert, N Oundjian, D Stern, Ingrid M. Wentzensen, Anne Slavotinek, Dianalee McKnight, Allyn McConkie-Rosell, S Schrier Vergano, Katherine H. Kim, N Chandy
Publikováno v:
Clinical Genetics. 92:221-223
Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle;
Autor:
Kym M. Boycott, Erick Sell, Arran McBride, Martine Tétreault, Kristin D. Kernohan, Brooke E. Spangler, Lijia Huang, Eric A. Shoubridge, Geneviève Bernard, Taila Hartley, Virginia K. Proud, Mihaela Pupavac, David A. Dyment, Isabelle Thiffault, Samanta Vergano, David S. Rosenblatt, Zvi Cramer, Tara Myers, Jennifer Kussman, Jacek Majewski, Nicole P. Safina, Carol J Saunders, Aziz Mhanni, Emily G. Farrow, Isabella R Straub
Publikováno v:
Human mutation. 38(5)
Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease-gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identifi