Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

by Friedrich Christopher A, Escobar Luis F, Tervo Raymond, Schmidt Karen R, Madan-Khetarpal Suneeta, Hersh Joseph H, Gowans Gordon C, Coppinger Justine, Theisen Aaron, Ballif Blake C, McDonald Marie, Campbell Lindsey, Ming Jeffrey E, Zackai Elaine H, Bejjani Bassem A, Shaffer Lisa G
Published 2008-04-01

Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases

by Montenegro-Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N., Madan-Khetarpal, Suneeta, Scott, Daryl A., Abarca-Barriga, Hugo, Trubnykova, Milana, Gingras, Marie Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard A.
Published 2021