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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: van gassen kli. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Scalais E, Osterheld E, Geron C, Pierron C, Chafai R, Schlesser V, Borde P, Regal L, Laeremans H, van Gassen KLI, van den Heuvel LB, De Meirleir L. Scalais E, et al. Among authors: van den heuvel lb, van gassen kli. JIMD Rep. 2019 Jul 1;49(1):70-79. doi: 10.1002/jmd2.12055. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497484 Free PMC article.
High-throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene.
Maroteaux G, Loos M, van der Sluis S, Koopmans B, Aarts E, van Gassen K, Geurts A; NeuroBSIK Mouse Phenomics Consortium; Largaespada DA, Spruijt BM, Stiedl O, Smit AB, Verhage M. Maroteaux G, et al. Genes Brain Behav. 2012 Oct;11(7):772-84. doi: 10.1111/j.1601-183X.2012.00820.x. Epub 2012 Aug 2. Genes Brain Behav. 2012. PMID: 22846151 Free PMC article.
High-resolution genetic mapping of mammalian motor activity levels in mice.
Kas MJ, de Mooij-van Malsen JG, de Krom M, van Gassen KL, van Lith HA, Olivier B, Oppelaar H, Hendriks J, de Wit M, Groot Koerkamp MJ, Holstege FC, van Oost BA, de Graan PN. Kas MJ, et al. Genes Brain Behav. 2009 Feb;8(1):13-22. doi: 10.1111/j.1601-183X.2008.00435.x. Epub 2008 Aug 21. Genes Brain Behav. 2009. PMID: 18721260 Free article.
Possible role of the innate immunity in temporal lobe epilepsy.
van Gassen KL, de Wit M, Koerkamp MJ, Rensen MG, van Rijen PC, Holstege FC, Lindhout D, de Graan PN. van Gassen KL, et al. Epilepsia. 2008 Jun;49(6):1055-65. doi: 10.1111/j.1528-1167.2007.01470.x. Epub 2007 Dec 11. Epilepsia. 2008. PMID: 18076643 Free article.
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V. Houge G, et al. J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13. J Clin Invest. 2015. PMID: 26168268 Free PMC article.
110 results