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

Year Number of Results
1975 1
1976 6
1977 6
1978 7
1979 2
1980 6
1981 5
1982 4
1983 1
1984 2
1985 3
1986 8
1987 7
1988 8
1989 14
1990 5
1991 9
1992 8
1993 4
1994 8
1995 4
1996 9
1997 6
1998 6
1999 8
2000 4
2001 7
2002 9
2003 12
2004 11
2005 11
2006 19
2007 14
2008 22
2009 16
2010 16
2011 14
2012 14
2013 16
2014 11
2015 19
2016 19
2017 10
2018 13
2019 12
2020 7
2021 9
2022 4
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Article type
Publication date

Search Results

395 results
Results by year
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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: boltshauser e. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Drug treatment.
Perlman S, Boltshauser E. Perlman S, et al. Among authors: boltshauser e. Handb Clin Neurol. 2018;155:371-377. doi: 10.1016/B978-0-444-64189-2.00024-X. Handb Clin Neurol. 2018. PMID: 29891072 Review.
Laboratory investigations.
Boltshauser E, Weber KP. Boltshauser E, et al. Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. Handb Clin Neurol. 2018. PMID: 29903445 Review.
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Among authors: boltshauser e. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
Torcular Pseudomass.
Boltshauser E, Toelle SP, Scheer I, Hackenberg A. Boltshauser E, et al. Neuropediatrics. 2018 Jun;49(3):225-226. doi: 10.1055/s-0038-1635076. Epub 2018 Feb 27. Neuropediatrics. 2018. PMID: 29486503 No abstract available.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M; Genomics England Research Consortium, Boltshauser E, Sayer JA. Powell L, et al. Among authors: boltshauser e. Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. Brain Commun. 2021. PMID: 34423300 Free PMC article.
Cerebellar and Brainstem Malformations.
Poretti A, Boltshauser E, Huisman TA. Poretti A, et al. Among authors: boltshauser e. Neuroimaging Clin N Am. 2016 Aug;26(3):341-57. doi: 10.1016/j.nic.2016.03.005. Neuroimaging Clin N Am. 2016. PMID: 27423798 Review.
Crossed cerebro-cerebellar diaschisis.
Poretti A, Boltshauser E. Poretti A, et al. Among authors: boltshauser e. Neuropediatrics. 2012 Apr;43(2):53-4. doi: 10.1055/s-0032-1310543. Epub 2012 Apr 3. Neuropediatrics. 2012. PMID: 22473241 No abstract available.
Chiari Malformations and Syringohydromyelia in Children.
Poretti A, Boltshauser E, Huisman TA. Poretti A, et al. Among authors: boltshauser e. Semin Ultrasound CT MR. 2016 Apr;37(2):129-42. doi: 10.1053/j.sult.2015.12.001. Epub 2015 Dec 10. Semin Ultrasound CT MR. 2016. PMID: 27063663 Review.
395 results