Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

271 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Frega M, Linda K, Keller JM, Gümüş-Akay G, Mossink B, van Rhijn JR, Negwer M, Klein Gunnewiek T, Foreman K, Kompier N, Schoenmaker C, van den Akker W, van der Werf I, Oudakker A, Zhou H, Kleefstra T, Schubert D, van Bokhoven H, Nadif Kasri N. Frega M, et al. Among authors: kleefstra t. Nat Commun. 2019 Oct 30;10(1):4928. doi: 10.1038/s41467-019-12947-3. Nat Commun. 2019. PMID: 31666522 Free PMC article.
Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.
Mossink B, Verboven AHA, van Hugte EJH, Klein Gunnewiek TM, Parodi G, Linda K, Schoenmaker C, Kleefstra T, Kozicz T, van Bokhoven H, Schubert D, Nadif Kasri N, Frega M. Mossink B, et al. Among authors: kleefstra t. Stem Cell Reports. 2021 Sep 14;16(9):2182-2196. doi: 10.1016/j.stemcr.2021.07.001. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329594 Free PMC article.
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.
Wang S, Rhijn JV, Akkouh I, Kogo N, Maas N, Bleeck A, Ortiz IS, Lewerissa E, Wu KM, Schoenmaker C, Djurovic S, van Bokhoven H, Kleefstra T, Nadif Kasri N, Schubert D. Wang S, et al. Among authors: kleefstra t. Cell Rep. 2022 May 3;39(5):110790. doi: 10.1016/j.celrep.2022.110790. Cell Rep. 2022. PMID: 35508131 Free PMC article.
The role of the gut microbiota in patients with Kleefstra syndrome.
Bloemendaal M, Vlaming P, de Boer A, Vermeulen-Kalk K, Bouman A, Kleefstra T, Arias Vasquez A. Bloemendaal M, et al. Among authors: kleefstra t. Am J Med Genet B Neuropsychiatr Genet. 2023 Oct-Dec;192(7-8):124-138. doi: 10.1002/ajmg.b.32926. Epub 2023 Jan 11. Am J Med Genet B Neuropsychiatr Genet. 2023. PMID: 36630271
271 results