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14 results
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H.
Vermeer S, et al.
J Mol Diagn. 2009 Nov;11(6):514-23. doi: 10.2353/jmoldx.2009.090059. Epub 2009 Sep 24.
J Mol Diagn. 2009.
PMID: 19779133
Free PMC article.
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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ.
Jonckheere AI, et al. Among authors: hofste tg.
J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22.
J Med Genet. 2008.
PMID: 17954552
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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R.
Jonckheere AI, et al. Among authors: hofste t.
BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23.
BMJ Case Rep. 2009.
PMID: 21686774
Free PMC article.
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium.
Yaldiz B, et al. Among authors: hofste t.
Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5.
Hum Genomics. 2023.
PMID: 37138343
Free PMC article.
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BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A.
Neveling K, et al. Among authors: hofste t.
Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.
Clin Chem. 2017.
PMID: 27974384
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Presence of Genetic Variants Among Young Men With Severe COVID-19.
van der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, Hagmolen Of Ten Have W, Klijn E, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers CP, Joosten LAB, Yntema HG, Gilissen C, Nelen M, van der Meer JWM, Brunner HG, Netea MG, van de Veerdonk FL, Hoischen A.
van der Made CI, et al. Among authors: hofste t.
JAMA. 2020 Aug 18;324(7):663-673. doi: 10.1001/jama.2020.13719.
JAMA. 2020.
PMID: 32706371
Free PMC article.
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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G, Schieving JH, Yntema HG, Pennings M, Pfundt R, Derks R, Hofste T, de Wijs I, Wieskamp N, van den Heuvel S, Galbany JC, Gilissen C, Nelen M, Brunner HG, Kleefstra T, Kamsteeg EJ, Willemsen MAAP, Vissers LELM.
Schobers G, et al. Among authors: hofste t.
Genome Med. 2022 Jun 17;14(1):66. doi: 10.1186/s13073-022-01069-z.
Genome Med. 2022.
PMID: 35710456
Free PMC article.
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Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer.
Hofste LSM, Geerlings MJ, von Rhein D, Tolmeijer SH, Weiss MM, Gilissen C, Hofste T, Garms LM, Janssen MJR, Rütten H, Rosman C, van der Post RS, Klarenbeek BR, Ligtenberg MJL.
Hofste LSM, et al. Among authors: hofste t.
Cancers (Basel). 2022 Sep 11;14(18):4417. doi: 10.3390/cancers14184417.
Cancers (Basel). 2022.
PMID: 36139577
Free PMC article.
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Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer.
Hofste LSM, Geerlings MJ, von Rhein D, Rütten H, Westenberg AH, Weiss MM, Gilissen C, Hofste T, van der Post RS, Klarenbeek BR, de Wilt JHW, Ligtenberg MJL; Libic2 collaborators group.
Hofste LSM, et al. Among authors: hofste t.
Eur J Surg Oncol. 2023 Jul;49(7):1283-1290. doi: 10.1016/j.ejso.2023.01.026. Epub 2023 Jan 31.
Eur J Surg Oncol. 2023.
PMID: 36740555
Free article.
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