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

Year Number of Results
1979 1
1981 2
1982 4
1983 4
1984 1
1985 10
1986 3
1987 9
1988 3
1989 5
1990 6
1991 3
1992 5
1993 4
1994 6
1995 12
1996 14
1997 10
1998 18
1999 8
2000 11
2001 19
2002 9
2003 10
2004 13
2005 10
2006 10
2007 6
2008 10
2009 18
2010 15
2011 10
2012 6
2013 8
2014 11
2015 7
2016 10
2017 13
2018 10
2019 14
2020 17
2021 16
2022 21
2023 19
2024 7

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397 results

Results by year

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Page 1
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
Myelodysplastic syndromes with ring sideroblasts.
Bruzzese A, Vigna E, Martino EA, Mendicino F, Lucia E, Olivito V, Bova C, Barbato A, Filippelli G, Capodanno I, Neri A, Morabito F, Gentile M. Bruzzese A, et al. Hematol Oncol. 2023 Oct;41(4):612-620. doi: 10.1002/hon.3125. Epub 2023 Feb 26. Hematol Oncol. 2023. PMID: 36794650 Review.
The porphyrias.
Thiers BH. Thiers BH. J Am Acad Dermatol. 1981 Nov;5(5):621-5. doi: 10.1016/s0190-9622(81)80053-9. J Am Acad Dermatol. 1981. PMID: 7298935 No abstract available.
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Variegate porphyria.
Kirsch RE, Meissner PN, Hift RJ. Kirsch RE, et al. Semin Liver Dis. 1998;18(1):33-41. doi: 10.1055/s-2007-1007138. Semin Liver Dis. 1998. PMID: 9516676 Review.
397 results