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19 results

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Page 1
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nürnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA. Groen JL, et al. Among authors: haagmans m. Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8. Hum Mol Genet. 2015. PMID: 25296916 Free PMC article.
RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: haagmans ma. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
Cow's milk allergy in Dutch children: an epigenetic pilot survey.
Petrus NCM, Henneman P, Venema A, Mul A, van Sinderen F, Haagmans M, Mook O, Hennekam RC, Sprikkelman AB, Mannens M. Petrus NCM, et al. Among authors: haagmans m. Clin Transl Allergy. 2016 May 4;6:16. doi: 10.1186/s13601-016-0105-z. eCollection 2016. Clin Transl Allergy. 2016. PMID: 27148440 Free PMC article.
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS. Chatzispyrou IA, et al. Among authors: haagmans ma. Hum Mol Genet. 2017 Jul 1;26(13):2541-2550. doi: 10.1093/hmg/ddx152. Hum Mol Genet. 2017. PMID: 28449065 Free PMC article.
Exploring nanopore direct sequencing performance of forensic STRs, SNPs, InDels, and DNA methylation markers in a single assay.
de Bruin DDSH, Haagmans MA, van der Gaag KJ, Hoogenboom J, Weiler NEC, Tesi N, Salazar A, Zhang Y, Holstege H, Reinders M, M'charek AA, Sijen T, Henneman P. de Bruin DDSH, et al. Among authors: haagmans ma. Forensic Sci Int Genet. 2025 Jan;74:103154. doi: 10.1016/j.fsigen.2024.103154. Epub 2024 Oct 12. Forensic Sci Int Genet. 2025. PMID: 39426120 Free article.
Differentiating between segmental arterial mediolysis and other arterial vasculopathies to establish an early diagnosis - a systematic literature review and proposal of new diagnostic criteria.
van Twist DJL, Appelboom Y, Magro-Checa C, Haagmans M, Riedl R, Yazar O, Bouwman LH, Mostard GJM. van Twist DJL, et al. Among authors: haagmans m. Postgrad Med. 2024 Jan;136(1):1-13. doi: 10.1080/00325481.2023.2288561. Epub 2023 Nov 28. Postgrad Med. 2024. PMID: 37998079 Review.
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