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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1991 2
1992 1
1993 4
1994 2
1995 2
1996 1
1997 3
1999 3
2000 1
2002 3
2003 3
2004 5
2005 3
2006 2
2008 1
2009 1
2012 1
2016 1
2017 1
2018 1
2019 1
2021 1
2022 2
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43 results
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Page 1
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. Coughlin CR 2nd, et al. Among authors: vaisanen ml. Genet Med. 2017 Jan;19(1):104-111. doi: 10.1038/gim.2016.74. Epub 2016 Jun 30. Genet Med. 2017. PMID: 27362913 Free article.
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
Vieira P, Nagy II, Rahikkala E, Väisänen ML, Latva K, Kaunisto K, Valmari P, Keski-Filppula R, Haanpää MK, Sidoroff V, Miettinen PJ, Arkkola T, Ojaniemi M, Nuutinen M, Uusimaa J, Myllynen P. Vieira P, et al. Among authors: vaisanen ml. J Inherit Metab Dis. 2022 Mar;45(2):223-234. doi: 10.1002/jimd.12446. Epub 2021 Nov 11. J Inherit Metab Dis. 2022. PMID: 34622459
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: vaisanen ml. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 Free PMC article.
Gastrointestinal microflora studies in late-onset autism.
Finegold SM, Molitoris D, Song Y, Liu C, Vaisanen ML, Bolte E, McTeague M, Sandler R, Wexler H, Marlowe EM, Collins MD, Lawson PA, Summanen P, Baysallar M, Tomzynski TJ, Read E, Johnson E, Rolfe R, Nasir P, Shah H, Haake DA, Manning P, Kaul A. Finegold SM, et al. Among authors: vaisanen ml. Clin Infect Dis. 2002 Sep 1;35(Suppl 1):S6-S16. doi: 10.1086/341914. Clin Infect Dis. 2002. PMID: 12173102
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. Coughlin CR, et al. Among authors: vaisanen ml. Genet Med. 2018 Sep;20(9):1098. doi: 10.1038/gim.2017.232. Genet Med. 2018. PMID: 29300369 Free article.
Anaerotruncus colihominis gen. nov., sp. nov., from human faeces.
Lawson PA, Song Y, Liu C, Molitoris DR, Vaisanen ML, Collins MD, Finegold SM. Lawson PA, et al. Among authors: vaisanen ml. Int J Syst Evol Microbiol. 2004 Mar;54(Pt 2):413-417. doi: 10.1099/ijs.0.02653-0. Int J Syst Evol Microbiol. 2004. PMID: 15023953
43 results