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RELN rare variants in myoclonus-dystonia.
Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4.
Mov Disord. 2015.
PMID: 25648840
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.
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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC.
Alders M, et al. Among authors: haagmans ma.
Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7.
Hum Genet. 2014.
PMID: 24913602
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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
Mook OR, Haagmans MA, Soucy JF, van de Meerakker JB, Baas F, Jakobs ME, Hofman N, Christiaans I, Lekanne Deprez RH, Mannens MM.
Mook OR, et al. Among authors: haagmans ma.
J Med Genet. 2013 Sep;50(9):614-26. doi: 10.1136/jmedgenet-2012-101231. Epub 2013 Jun 19.
J Med Genet. 2013.
PMID: 23785128
Free PMC article.
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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.
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.
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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.
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Five Complete Genome Sequences Spanning the Dutch Streptococcus suis Serotype 2 and Serotype 9 Populations.
van der Putten BCL, Roodsant TJ, Haagmans MA, Schultsz C, van der Ark KCH.
van der Putten BCL, et al. Among authors: haagmans ma.
Microbiol Resour Announc. 2020 Feb 6;9(6):e01439-19. doi: 10.1128/MRA.01439-19.
Microbiol Resour Announc. 2020.
PMID: 32029569
Free PMC article.
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Correction for van der Putten et al., "Five Complete Genome Sequences Spanning the Dutch Streptococcus suis Serotype 2 and Serotype 9 Populations".
van der Putten BCL, Roodsant TJ, Haagmans MA, Schultsz C, van der Ark KCH.
van der Putten BCL, et al. Among authors: haagmans ma.
Microbiol Resour Announc. 2022 Nov 17;11(11):e0095122. doi: 10.1128/mra.00951-22. Epub 2022 Oct 27.
Microbiol Resour Announc. 2022.
PMID: 36301098
Free PMC article.
No abstract available.
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