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

Year Number of Results
2006 3
2007 2
2009 2
2010 4
2011 4
2012 4
2013 7
2014 7
2015 8
2016 6
2017 13
2018 13
2019 24
2020 17
2021 12
2022 9
2023 10
2024 4

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121 results

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Page 1
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. Boy N, et al. Among authors: williams m. J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17. J Inherit Metab Dis. 2023. PMID: 36221165 Free article.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Forny P, et al. Among authors: williams m. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. J Inherit Metab Dis. 2021. PMID: 33595124 Free PMC article.
Genetic Manipulation of Non-tuberculosis Mycobacteria.
Chimukuche NM, Williams MJ. Chimukuche NM, et al. Among authors: williams mj. Front Microbiol. 2021 Feb 17;12:633510. doi: 10.3389/fmicb.2021.633510. eCollection 2021. Front Microbiol. 2021. PMID: 33679662 Free PMC article. Review.
Gaps in clinical research in frontotemporal dementia: A call for diversity and disparities-focused research.
Franzen S, Nuytemans K, Bourdage R, Caramelli P, Ellajosyula R, Finger E, Illán-Gala I, Loi SM, Morhardt D, Pijnenburg Y, Rascovsky K, Williams MM, Yokoyama JS, Alladi S, Ayhan Y, Broce I, Castro-Suarez S, Coleman K, de Souza LC, Dacks PA, de Boer SCM, de Leon J, Dodge S, Grasso S, Gupta V, Gupta V, Ghoshal N, Kamath V, Kumfor F, Matias-Guiu JA, Narme P, Nielsen TR, Okhuevbie D, Piña-Escudero SD, Garcia RR, Scarioni M, Slachevsky A, Suarez-Gonzalez A, Tee BL, Tsoy E, Ulugut H, Babulal GM, Onyike CU; ISTAART FTD PIA and ISTAART Diversity and Disparities PIA. Franzen S, et al. Among authors: williams mm. Alzheimers Dement. 2023 Dec;19(12):5817-5836. doi: 10.1002/alz.13129. Epub 2023 Jun 3. Alzheimers Dement. 2023. PMID: 37270665
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Dimitrov B, Molema F, Williams M, Schmiesing J, Mühlhausen C, Baumgartner MR, Schumann A, Kölker S. Dimitrov B, et al. Among authors: williams m. J Inherit Metab Dis. 2021 Jan;44(1):9-21. doi: 10.1002/jimd.12254. Epub 2020 May 27. J Inherit Metab Dis. 2021. PMID: 32412122 Free article. Review.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: williams m. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
121 results