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Year Number of Results
2001 1
2003 1
2004 1
2006 1
2007 2
2008 1
2009 2
2010 2
2011 3
2013 1
2014 1
2015 1
2017 2
2018 2
2019 5
2020 4
2021 4
2022 2
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2024 3

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33 results

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Page 1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M. Poggio E, et al. Among authors: verloo p. Genet Med. 2023 Dec;25(12):100971. doi: 10.1016/j.gim.2023.100971. Epub 2023 Sep 4. Genet Med. 2023. PMID: 37675773 Free article.
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Among authors: verloo p. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
Nutrient Status and Intakes of Adults with Phenylketonuria.
Venegas E, Langeveld S, Ahring K, Benitez R, Desloovere A, Dios E, Gómez E, Hermida A, Marsaux C, Verloo P, Couce ML. Venegas E, et al. Among authors: verloo p. Nutrients. 2024 Aug 15;16(16):2724. doi: 10.3390/nu16162724. Nutrients. 2024. PMID: 39203860 Free PMC article.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA); Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. Naesens L, et al. Among authors: verloo p. J Clin Immunol. 2022 Jul;42(5):962-974. doi: 10.1007/s10875-022-01209-5. Epub 2022 Mar 23. J Clin Immunol. 2022. PMID: 35320431 Free PMC article.
Electrophysiological studies of malaria parasite-infected erythrocytes: current status.
Staines HM, Alkhalil A, Allen RJ, De Jonge HR, Derbyshire E, Egée S, Ginsburg H, Hill DA, Huber SM, Kirk K, Lang F, Lisk G, Oteng E, Pillai AD, Rayavara K, Rouhani S, Saliba KJ, Shen C, Solomon T, Thomas SL, Verloo P, Desai SA. Staines HM, et al. Among authors: verloo p. Int J Parasitol. 2007 Apr;37(5):475-82. doi: 10.1016/j.ijpara.2006.12.013. Epub 2007 Jan 9. Int J Parasitol. 2007. PMID: 17292372 Free PMC article. Review.
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.
Mendes MI, Wolf NI, Rudinger-Thirion J, Lenz D, Frugier M, Verloo P, Mandel H, Manor J, Kassel R, Corpeleijn WE, van der Rijt S, Schroor EM, van Dooren SJM, Staufner C, Salomons GS, Smith DEC. Mendes MI, et al. Among authors: verloo p. Nucleic Acids Res. 2024 Dec 11;52(22):e107. doi: 10.1093/nar/gkae1134. Nucleic Acids Res. 2024. PMID: 39574415 Free PMC article.
33 results