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

Year Number of Results
1950 1
1951 1
1952 1
1960 2
1964 1
1973 3
1974 1
1975 1
1976 1
1979 3
1980 1
1982 1
1983 2
1984 1
1985 3
1986 2
1987 3
1988 4
1989 6
1990 2
1991 5
1992 2
1993 1
1994 1
1995 1
1996 6
1997 1
1998 11
1999 5
2000 4
2001 5
2002 10
2003 13
2004 5
2005 10
2006 12
2007 24
2008 12
2009 15
2010 21
2011 40
2012 38
2013 45
2014 28
2015 37
2016 34
2017 48
2018 56
2019 51
2020 48
2021 54
2022 45
2023 35
2024 31
2025 2

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705 results

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Page 1
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Among authors: thiel ct. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
Climate change and global health: A call to more research and more action.
Agache I, Sampath V, Aguilera J, Akdis CA, Akdis M, Barry M, Bouagnon A, Chinthrajah S, Collins W, Dulitzki C, Erny B, Gomez J, Goshua A, Jutel M, Kizer KW, Kline O, LaBeaud AD, Pali-Schöll I, Perrett KP, Peters RL, Plaza MP, Prunicki M, Sack T, Salas RN, Sindher SB, Sokolow SH, Thiel C, Veidis E, Wray BD, Traidl-Hoffmann C, Witt C, Nadeau KC. Agache I, et al. Among authors: thiel c. Allergy. 2022 May;77(5):1389-1407. doi: 10.1111/all.15229. Epub 2022 Feb 8. Allergy. 2022. PMID: 35073410 Review.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: thiel c. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Validity of the six-minute walk test in cancer patients.
Schmidt K, Vogt L, Thiel C, Jäger E, Banzer W. Schmidt K, et al. Among authors: thiel c. Int J Sports Med. 2013 Jul;34(7):631-6. doi: 10.1055/s-0032-1323746. Epub 2013 Feb 26. Int J Sports Med. 2013. PMID: 23444095
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: thiel c. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Environmentally sustainable brachytherapy care.
Lichter KE, Baniel CC, Anderson J, Bhatia R, Frick MA, Thiel CL, Gandhi S, Sarria GR, Bagshaw HP, Petereit D, Chino J, Grover S, Singer L, Hsu IC, Mohamad O. Lichter KE, et al. Among authors: thiel cl. Brachytherapy. 2022 Sep-Oct;21(5):712-717. doi: 10.1016/j.brachy.2022.06.002. Epub 2022 Jul 3. Brachytherapy. 2022. PMID: 35794032 Free PMC article. No abstract available.
Derivation and expansion using only small molecules of human neural progenitors for neurodegenerative disease modeling.
Reinhardt P, Glatza M, Hemmer K, Tsytsyura Y, Thiel CS, Höing S, Moritz S, Parga JA, Wagner L, Bruder JM, Wu G, Schmid B, Röpke A, Klingauf J, Schwamborn JC, Gasser T, Schöler HR, Sterneckert J. Reinhardt P, et al. Among authors: thiel cs. PLoS One. 2013;8(3):e59252. doi: 10.1371/journal.pone.0059252. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533608 Free PMC article.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Rauch A, et al. Among authors: thiel ct. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: thiel ct. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. Himmelreich N, et al. Among authors: thiel c. Mol Genet Metab. 2022 Aug;136(4):274-281. doi: 10.1016/j.ymgme.2022.06.005. Epub 2022 Jun 26. Mol Genet Metab. 2022. PMID: 35839600 Review.
705 results