Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1972 1
1975 1
1977 2
1979 2
1984 1
1985 1
1986 1
1987 3
1988 4
1992 2
1993 2
1994 1
1995 1
1996 1
1998 3
1999 7
2000 9
2001 11
2002 14
2003 8
2004 13
2005 7
2006 7
2007 7
2008 7
2009 8
2010 2
2011 6
2012 10
2013 17
2014 17
2015 20
2016 28
2017 17
2018 15
2019 16
2020 34
2021 14
Text availability
Article attribute
Article type
Publication date

Search Results

283 results
Results by year
Filters applied: . Clear all
Page 1
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Among authors: marquardt t. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Park JH, et al. Among authors: marquardt t. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Rujano MA, Cannata Serio M, Panasyuk G, Péanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jäger S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M. Rujano MA, et al. Among authors: marquardt t. J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10. J Exp Med. 2017. PMID: 29127204 Free PMC article.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Tegtmeyer LC, et al. Among authors: marquardt t. N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605. N Engl J Med. 2014. PMID: 24499211 Free PMC article.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Among authors: marquardt t. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Patterson MC, et al. Among authors: marquardt t. Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Neurol Clin Pract. 2017. PMID: 29431164 Free PMC article. Review.
Targeted inhibition of activated protein C by a non-active-site inhibitory antibody to treat hemophilia.
Zhao XY, Wilmen A, Wang D, Wang X, Bauzon M, Kim JY, Linden L, Li L, Egner U, Marquardt T, Moosmayer D, Tebbe J, Glück JM, Ellinger P, McLean K, Yuan S, Yegneswaran S, Jiang X, Evans V, Gu JM, Schneider D, Zhu Y, Xu Y, Mallari C, Hesslein A, Wang Y, Schmidt N, Gutberlet K, Ruehl-Fehlert C, Freyberger A, Hermiston T, Patel C, Sim D, Mosnier LO, Laux V. Zhao XY, et al. Among authors: marquardt t. Nat Commun. 2020 Jun 12;11(1):2992. doi: 10.1038/s41467-020-16720-9. Nat Commun. 2020. PMID: 32532974 Free PMC article.
L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T. Park JH, et al. Among authors: marquardt t. Mol Genet Metab Rep. 2020 Dec 5;25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33312876 Free PMC article.
Unsuccessful intravenous D-mannose treatment in PMM2-CDG.
Grünert SC, Marquardt T, Lausch E, Fuchs H, Thiel C, Sutter M, Schumann A, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: marquardt t. Orphanet J Rare Dis. 2019 Oct 22;14(1):231. doi: 10.1186/s13023-019-1213-3. Orphanet J Rare Dis. 2019. PMID: 31640729 Free PMC article.
283 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page