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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.
Patel AM, Wierda K, Thorrez L, van Putten M, De Smedt J, Ribeiro L, Tricot T, Gajjar M, Duelen R, Van Damme P, De Waele L, Goemans N, Tanganyika-de Winter C, Costamagna D, Aartsma-Rus A, van Duyvenvoorde H, Sampaolesi M, Buyse GM, Verfaillie CM. Patel AM, et al. Transl Psychiatry. 2019 Aug 21;9(1):200. doi: 10.1038/s41398-019-0535-1. Transl Psychiatry. 2019. PMID: 31434868 Free PMC article.
Genetic analysis of short children with apparent growth hormone insensitivity.
Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M. Wit JM, et al. Among authors: van duyvenvoorde ha, van doorn j. Horm Res Paediatr. 2012;77(5):320-33. doi: 10.1159/000338462. Epub 2012 Jun 6. Horm Res Paediatr. 2012. PMID: 22678306
Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.
Koeks Z, Janson AA, Beekman C, Signorelli M, van Duyvenvoorde HA, van den Bergen JC, Hooijmans MT, Alleman I, Hegeman IM, Verschuuren JJGM, V Deutekom JC, Spitali P, Datson NA, Niks EH. Koeks Z, et al. Among authors: van duyvenvoorde ha, van den bergen jc. Sci Rep. 2021 Mar 15;11(1):5952. doi: 10.1038/s41598-021-84863-w. Sci Rep. 2021. PMID: 33723284 Free PMC article.
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. de Bruin C, et al. Among authors: van gent dc, van duyvenvoorde ha. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R. Koopmann TT, et al. Among authors: van duyvenvoorde ha. Eur J Hum Genet. 2023 Jan;31(1):97-104. doi: 10.1038/s41431-022-01204-9. Epub 2022 Oct 17. Eur J Hum Genet. 2023. PMID: 36253531 Free PMC article.
45 results