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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels IJJ, Schene IF, Rehmann H, Massink MPG, van der Wal MM, Bauder C, Labeur M, Armando NG, Lequin MH, Houben ML, Giltay JC, Haitjema S, Huisman A, Vansenne F, Bluvstein J, Pappas J, Shailee LV, Zarate YA, Mokry M, van Haaften GW, Nieuwenhuis EES, Refojo D, van Wijk F, Fuchs SA, van Hasselt PM. Muffels IJJ, et al. Among authors: van haaften gw. Am J Hum Genet. 2023 Jan 5;110(1):146-160. doi: 10.1016/j.ajhg.2022.12.003. Am J Hum Genet. 2023. PMID: 36608681 Free PMC article.
[Genetic obesity: new diagnostic options].
de Vries TI, Alsters SI, Kleinendorst L, van Haaften G, van der Zwaag B, Van Haelst MM. de Vries TI, et al. Ned Tijdschr Geneeskd. 2017;161:D688. Ned Tijdschr Geneeskd. 2017. PMID: 28351432 Dutch.
In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors.
Roze J, Sendino Garví E, Stelloo E, Stangl C, Sereno F, Duran K, Groeneweg J, Paijens S, Nijman H, van Meurs H, van Lonkhuijzen L, Piek J, Lok C, Jonges G, Witteveen P, Verheijen R, van Haaften G, Zweemer R, Monroe G. Roze J, et al. Cancers (Basel). 2021 Jan 20;13(3):368. doi: 10.3390/cancers13030368. Cancers (Basel). 2021. PMID: 33498451 Free PMC 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. 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.
89 results