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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14.
Am J Med Genet A. 2023.
PMID: 37183572
Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome.
Aguilan JT, Pedrosa E, Dolstra H, Baykara RN, Barnes J, Zhang J, Sidoli S, Lachman HM.
Aguilan JT, et al.
bioRxiv [Preprint]. 2023 Jul 8:2023.07.08.548192. doi: 10.1101/2023.07.08.548192.
bioRxiv. 2023.
PMID: 37461463
Free PMC article.
Preprint.
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