Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

by Alison Pandelache, Emma K Baker, Solange M. Aliaga, Marta Arpone, Robin Forbes, Zornitza Stark, David Francis, David E. Godler
Published 2019-04-01

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient

by Peter J. Houweling, Chantal A. Coles, Chrystal F. Tiong, Bridget Nielsen, Alison Graham, Penny McDonald, Annabelle Suter, Adam T. Piers, Robin Forbes, Monique M. Ryan, Sara E. Howden, Shireen R. Lamandé, Kathryn N. North
Published 2021-07-01