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Monocarboxylate transporter 1 deficiency and ketone utilization.
van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G. van Hasselt PM, et al. Among authors: harakalova m. N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778. N Engl J Med. 2014. PMID: 25390740 Free article.
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory LC, Ferreira CB, Young-Baird SK, Williams HJ, Harakalova M, van Haaften G, Rahman SA, Gaston-Massuet C, Kelberman D, GOSgene, Qasim W, Camper SA, Dever TE, Shah P, Robinson ICAF, Dattani MT. Gregory LC, et al. Among authors: harakalova m. EBioMedicine. 2019 Apr;42:470-480. doi: 10.1016/j.ebiom.2019.03.013. Epub 2019 Mar 14. EBioMedicine. 2019. PMID: 30878599 Free PMC article.
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M. Schanze D, et al. Among authors: harakalova m. Am J Med Genet A. 2013 Dec;161A(12):3012-7. doi: 10.1002/ajmg.a.36119. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24115501
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF. Monroe GR, et al. Among authors: harakalova m. Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845371
Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes.
Hemerich D, Pei J, Harakalova M, van Setten J, Boymans S, Boukens BJ, Efimov IR, Michels M, van der Velden J, Vink A, Cheng C, van der Harst P, Moore JH, Mokry M, Tragante V, Asselbergs FW. Hemerich D, et al. Among authors: harakalova m. Circ Genom Precis Med. 2019 Feb;12(2):e002328. doi: 10.1161/CIRCGEN.118.002328. Circ Genom Precis Med. 2019. PMID: 30681347 Free PMC article.
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.
Pei J, Schuldt M, Nagyova E, Gu Z, El Bouhaddani S, Yiangou L, Jansen M, Calis JJA, Dorsch LM, Blok CS, van den Dungen NAM, Lansu N, Boukens BJ, Efimov IR, Michels M, Verhaar MC, de Weger R, Vink A, van Steenbeek FG, Baas AF, Davis RP, Uh HW, Kuster DWD, Cheng C, Mokry M, van der Velden J, Asselbergs FW, Harakalova M. Pei J, et al. Among authors: harakalova m. Clin Epigenetics. 2021 Mar 23;13(1):61. doi: 10.1186/s13148-021-01043-3. Clin Epigenetics. 2021. PMID: 33757590 Free PMC article.
Genetic Basis of Dilated Cardiomyopathy in Dogs and Its Potential as a Bidirectional Model.
Gaar-Humphreys KR, Spanjersberg TCF, Santarelli G, Grinwis GCM, Szatmári V, Roelen BAJ, Vink A, van Tintelen JP, Asselbergs FW, Fieten H, Harakalova M, van Steenbeek FG. Gaar-Humphreys KR, et al. Among authors: harakalova m. Animals (Basel). 2022 Jun 29;12(13):1679. doi: 10.3390/ani12131679. Animals (Basel). 2022. PMID: 35804579 Free PMC article. Review.
61 results