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

133 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Boulogne F, Claus LR, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra HJ, van der Zwaag B, van Reekum F; Genomics England Research Consortium; Sierks D, Schönauer R, Li Z, Bijlsma EK, Bos WJW, Halbritter J, Knoers NVAM, Besse W, Deelen P, Franke L, van Eerde AM. Boulogne F, et al. Among authors: bijlsma ek. Eur J Hum Genet. 2023 Nov;31(11):1300-1308. doi: 10.1038/s41431-023-01296-x. Epub 2023 Feb 20. Eur J Hum Genet. 2023. PMID: 36807342 Free PMC article.
Disease Onset in Huntington's Disease: When Is the Conversion?
Oosterloo M, de Greef BTA, Bijlsma EK, Durr A, Tabrizi SJ, Estevez-Fraga C, de Die-Smulders CEM, Roos RAC. Oosterloo M, et al. Among authors: bijlsma ek. Mov Disord Clin Pract. 2021 Jan 31;8(3):352-360. doi: 10.1002/mdc3.13148. eCollection 2021 Apr. Mov Disord Clin Pract. 2021. PMID: 33816663 Free PMC article.
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy.
Meesilpavikkai K, Dik WA, Schrijver B, van Helden-Meeuwsen CG, Versnel MA, van Hagen PM, Bijlsma EK, Ruivenkamp CAL, Oele MJ, Dalm VASH. Meesilpavikkai K, et al. Among authors: bijlsma ek. Arthritis Rheumatol. 2019 May;71(5):829-831. doi: 10.1002/art.40805. Epub 2019 Mar 6. Arthritis Rheumatol. 2019. PMID: 30666809 Free PMC article. No abstract available.
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. Among authors: bijlsma ek. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.
Diagnostic genetic testing for Huntington's disease.
Craufurd D, MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, Hjermind LE, Lahiri N, Mandich P, Martinez A, Tibben A, Roos RA; Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network (EHDN). Craufurd D, et al. Among authors: bijlsma ek. Pract Neurol. 2015 Feb;15(1):80-4. doi: 10.1136/practneurol-2013-000790. Epub 2014 Aug 28. Pract Neurol. 2015. PMID: 25169240 Review. No abstract available.
Analysis of mutations in the SCH gene in schwannomas.
Bijlsma EK, Merel P, Bosch DA, Westerveld A, Delattre O, Thomas G, Hulsebos TJ. Bijlsma EK, et al. Genes Chromosomes Cancer. 1994 Sep;11(1):7-14. doi: 10.1002/gcc.2870110103. Genes Chromosomes Cancer. 1994. PMID: 7529050
133 results