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

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A, Tabet AC. Lévy J, et al. Among authors: engwerda a. Clin Genet. 2021 Oct;100(4):396-404. doi: 10.1111/cge.14017. Epub 2021 Jul 1. Clin Genet. 2021. PMID: 34176129
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Engwerda A, Leenders EKSM, Frentz B, Terhal PA, Löhner K, de Vries BBA, Dijkhuizen T, Vos YJ, Rinne T, van den Berg MP, Roofthooft MTR, Deelen P, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS. Engwerda A, et al. Eur J Hum Genet. 2021 Nov;29(11):1669-1676. doi: 10.1038/s41431-021-00948-0. Epub 2021 Aug 30. Eur J Hum Genet. 2021. PMID: 34456334 Free PMC article.
The role of TBX18 in congenital heart defects in humans not confirmed.
Engwerda A, Abbott KM, Hitzert MM, van Ravenswaaij-Arts CMA, Kerstjens-Frederikse WS. Engwerda A, et al. Eur J Hum Genet. 2023 Feb;31(2):138-141. doi: 10.1038/s41431-022-01242-3. Epub 2022 Nov 22. Eur J Hum Genet. 2023. PMID: 36418409 Free PMC article. No abstract available.
An autonomously oscillating supramolecular self-replicator.
Howlett MG, Engwerda AHJ, Scanes RJH, Fletcher SP. Howlett MG, et al. Among authors: engwerda ahj. Nat Chem. 2022 Jul;14(7):805-810. doi: 10.1038/s41557-022-00949-6. Epub 2022 May 26. Nat Chem. 2022. PMID: 35618766
A molecular assembler that produces polymers.
Engwerda AHJ, Fletcher SP. Engwerda AHJ, et al. Nat Commun. 2020 Aug 19;11(1):4156. doi: 10.1038/s41467-020-17814-0. Nat Commun. 2020. PMID: 32814774 Free PMC article.
24 results