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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9.
Genet Med. 2023.
PMID: 36350326
Free article.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A.
Zanoni P, et al. Among authors: mourmans j.
Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3.
Genet Med. 2021.
PMID: 33941880
Free PMC article.
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Sequential MR imaging changes in nonketotic hyperglycinemia.
Mourmans J, Majoie CB, Barth PG, Duran M, Akkerman EM, Poll-The BT.
Mourmans J, et al.
AJNR Am J Neuroradiol. 2006 Jan;27(1):208-11.
AJNR Am J Neuroradiol. 2006.
PMID: 16418385
Free PMC article.
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Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.
Mourmans J, Bakkeren J, de Jong J, Wevers R, van Diggelen OP, Suormala T, Baumgartner R, Wendel U.
Mourmans J, et al.
J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014.
J Inherit Metab Dis. 1995.
PMID: 8598650
No abstract available.
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Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain.
Waalkens AJE, Vansenne F, van der Hout AH, Zutt R, Mourmans J, Tolosa E, de Koning TJ, Tijssen MAJ.
Waalkens AJE, et al. Among authors: mourmans j.
Neurol Genet. 2018 Jan 24;4(1):e214. doi: 10.1212/NXG.0000000000000214. eCollection 2018 Feb.
Neurol Genet. 2018.
PMID: 29473048
Free PMC article.
No abstract available.
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Clinical heterogeneity in respiratory chain complex III deficiency in childhood.
Mourmans J, Wendel U, Bentlage HA, Trijbels JM, Smeitink JA, de Coo IF, Gabreëls FJ, Sengers RC, Ruitenbeek W.
Mourmans J, et al.
J Neurol Sci. 1997 Jul;149(1):111-7. doi: 10.1016/s0022-510x(97)05379-3.
J Neurol Sci. 1997.
PMID: 9168175
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Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.
Majoie CB, Mourmans JM, Akkerman EM, Duran M, Poll-The BT.
Majoie CB, et al. Among authors: mourmans jm.
AJNR Am J Neuroradiol. 2004 Jan;25(1):32-5.
AJNR Am J Neuroradiol. 2004.
PMID: 14729525
Free PMC article.
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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V.
Belnap N, et al. Among authors: mourmans j.
Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25.
Clin Genet. 2023.
PMID: 37491870
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