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

Year Number of Results
1958 1
1980 2
1981 1
1982 2
1983 1
1988 1
1995 2
1996 3
1997 5
1998 3
1999 3
2000 1
2001 2
2002 1
2005 5
2006 3
2007 6
2008 4
2009 9
2010 6
2011 6
2012 9
2013 13
2014 13
2015 10
2016 11
2017 15
2018 14
2019 13
2020 23
2021 21
2022 23
2023 9
2024 3

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199 results

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Page 1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: janssen mc. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Hereditary haemochromatosis.
Janssen MC, Swinkels DW. Janssen MC, et al. Best Pract Res Clin Gastroenterol. 2009;23(2):171-83. doi: 10.1016/j.bpg.2009.02.004. Best Pract Res Clin Gastroenterol. 2009. PMID: 19414144 Review.
Hereditary haemochromatosis.
Janssen MC. Janssen MC. Neth J Med. 2007 Dec;65(11):409-10. Neth J Med. 2007. PMID: 18079562 Free article. No abstract available.
Nephropathic cystinosis: an international consensus document.
Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E. Emma F, et al. Among authors: janssen mc. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4(Suppl 4):iv87-94. doi: 10.1093/ndt/gfu090. Nephrol Dial Transplant. 2014. PMID: 25165189 Free PMC article.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. Among authors: janssen mch. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
Tumoral calcinosis.
Janssen MC, de Sévaux RG. Janssen MC, et al. J Inherit Metab Dis. 2010 Feb;33(1):91-2. doi: 10.1007/s10545-009-9019-4. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049529 Free PMC article. No abstract available.
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Among authors: janssen mch. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. Among authors: janssen mch. Neurol Genet. 2023 Jul 19;9(5):e200089. doi: 10.1212/NXG.0000000000200089. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37476021 Free PMC article.
199 results