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Page 1
Showing results for thiel c
Search for Thieu C instead (2 results)
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.
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
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
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.
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.
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.
Transitioning to Environmentally Sustainable, Climate-Smart Radiation Oncology Care.
Lichter KE, Anderson J, Sim AJ, Baniel CC, Thiel CL, Chuter R, Collins A, Carollo E, Berg CD, Coleman CN, Abdel-Wahab M, Grover S, Singer L, Mohamad O. Lichter KE, et al. Among authors: thiel cl. Int J Radiat Oncol Biol Phys. 2022 Aug 1;113(5):915-924. doi: 10.1016/j.ijrobp.2022.04.039. Int J Radiat Oncol Biol Phys. 2022. PMID: 35841919 Free PMC article. No abstract available.
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.
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.
Bögershausen N, Cavdarli B, Nagai TH, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Gutiérrez-Gutiérrez Ó, Cyganek L, Saint-Dic D, Zibat A, Köhrer K, Wollenweber TE, Wieczorek D, Altmüller J, Borodina T, Kaçar D, Haliloğlu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: thiel c. JCI Insight. 2025 Mar 25;10(9):e173484. doi: 10.1172/jci.insight.173484. eCollection 2025 May 8. JCI Insight. 2025. PMID: 40131364 Free PMC article.
[Diagnosis and Treatment of Physical Frailty].
Braun T, Thiel C, Schulz RJ, Grüneberg C. Braun T, et al. Among authors: thiel c. Dtsch Med Wochenschr. 2017 Jan;142(2):117-122. doi: 10.1055/s-0042-101631. Epub 2017 Jan 23. Dtsch Med Wochenschr. 2017. PMID: 28114718 Review. German.
726 results