PMC Articles for MedGen (Select 1385744) - PMC

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Items: 3

Select item 103500771.

Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome

Jennifer T. Aguilan, Erika Pedrosa, Hedwig Dolstra, Refia Nur Baykara, Jesse Barnes, Jinghang Zhang, Simone Sidoli, Herbert M. Lachman

Version 1. bioRxiv. Preprint. 2023 Jul 8. doi: 10.1101/2023.07.08.548192

PMCID:: PMC10350077

Article PDF–2.1M

Select item 103302312.

Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families

Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B.A. deVries, Cynthia J Curry

Am J Med Genet A. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1900–1910. Published online 2023 May 14. doi: 10.1002/ajmg.a.63226