Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Creator: Zambonin, Jessica L. , Bellomo, Allison , Koenig, Mary Kay , Lines, Matthew , Palmer, Elizabeth Emma , Richardson, Randal , Segel, Reeval , Tarnopolsky, Mark , Vanstone, Jason R. , Gibbons, Melissa , Collins, Abigail , Fogel, Brent L. , Ben-Pazi, Hilla , Dudding-Byth, Tracy , Boycott, Kym M. , Everman, David B. , Frazer, Lee M. , Geraghty, Michael T. , Harper, Amy D. , Jones, Julie R. , Kamien, Benjamin , Kernohan, Kristin
- Resource Type: journal article
- Date: 2017
Mandibulofacial dysostosis with microcephaly: mutation and database update
- Creator: Huang, Lijia , Vanstone, Megan R. , Estrella, Jane , Faghfoury, Hanna , Favaro, Francine P. , Goel, Himanshu , Gregersen, Pernille A. , Gripp, Karen W. , Grix, Art , Guion-Almeida, Maria-Leine , Harr, Margaret H. , Hudson, Cindy , Hartley, Taila , Hunter, Alasdair G. W. , Johnson, John , Joss, Shelagh K. , Kimball, Amy , Kini, Usha , Kline, Antoine D. , Lauzon, Julie , Lildballe, Dorte L. , López-González, Vanesa , Martinezmoles, Johanna , Osmond, Matthew , Meldrum, Cliff , Mirzaa, Ghayda M. , Morel, Chantal F. , Morton, Jenny E. V. , Pyle, Louise C. , Quintero-Rivera, Fabiola , Richer, Julie , Scheuerle, Angela E. , Schönewolf-Greulich, Bitten , Shears, Deborah J. , Barrowman, Nick , Silver, Josh , Smith, Amanda C. , Temple, I. Karen , van de Kamp, Jiddeke M. , van Dijk, Fleur S. , Vandersteen, Anthony M. , White, Sue M. , Zackai, Elaine H. , Zou, Ruobing , Consortium, Care4Rare Canada , Allanson, Judith , Bulman, Dennis E. , Boycott, Kym M. , Lines, Matthew A. , Baker, Laura , Dabir, Tabib A. , Dipple, Katrina M. , Dobyns, William B.
- Resource Type: journal article
- Date: 2015