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

Year Number of Results
1950 1
1951 3
1952 1
1953 3
1954 6
1955 1
1956 2
1957 6
1958 2
1959 1
1960 5
1961 4
1962 4
1963 1
1964 5
1965 5
1966 2
1967 4
1968 1
1969 2
1970 4
1971 3
1972 3
1973 5
1974 2
1975 5
1977 2
1978 3
1979 3
1980 1
1981 4
1982 7
1983 3
1984 3
1985 2
1986 2
1987 1
1988 5
1989 7
1990 4
1991 2
1992 8
1993 5
1994 6
1995 9
1996 6
1997 7
1998 8
1999 6
2000 11
2001 10
2002 9
2003 10
2004 9
2005 9
2006 8
2007 8
2008 8
2009 12
2010 9
2011 7
2012 2
2013 10
2014 12
2015 15
2016 16
2017 14
2018 11
2019 12
2020 9
2021 9
2022 3
Text availability
Article attribute
Article type
Publication date

Search Results

387 results
Results by year
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Page 1
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. Among authors: mandel h. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: mandel h. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Among authors: mandel h. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
[Marfan's syndrome].
Shinawi S, Mandel H. Shinawi S, et al. Among authors: mandel h. Harefuah. 2000 Apr 2;138(7):598-603. Harefuah. 2000. PMID: 10883194 Review. Hebrew. No abstract available.
Interstitial deletion (6)q13q15.
Gershoni-Baruch R, Mandel H, Bar El H, Bar-Nizan N, Borochowitz Z, Dar H. Gershoni-Baruch R, et al. Among authors: mandel h. Am J Med Genet. 1996 Apr 24;62(4):345-7. doi: 10.1002/(SICI)1096-8628(19960424)62:4<345::AID-AJMG4>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723062 Review.
Concomitant congenital CMV infection and inherited liver diseases.
Swed-Tobia R, Kassis I, Weiss K, Tal G, Shaoul R, Falik-Zaccai TC, Mandel H, Meir M. Swed-Tobia R, et al. Among authors: mandel h. Eur J Med Genet. 2021 Aug;64(8):104249. doi: 10.1016/j.ejmg.2021.104249. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34023521
Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division.
Honsho M, Abe Y, Imoto Y, Chang ZF, Mandel H, Falik-Zaccai TC, Fujiki Y. Honsho M, et al. Among authors: mandel h. Int J Mol Sci. 2020 Oct 28;21(21):8040. doi: 10.3390/ijms21218040. Int J Mol Sci. 2020. PMID: 33126676 Free PMC article.
Peroxisome mosaics.
Roels F, Saudubray JM, Giros M, Mandel H, Eyskens F, Saracibar N, Atares Pueyo B, Prats JM, De Prest B, De Preter K, Pineda M, Krystkowiak P, Gootjes J, Wanders RJ, Espeel M, Poll-The BT. Roels F, et al. Among authors: mandel h. Adv Exp Med Biol. 2003;544:97-106. doi: 10.1007/978-1-4419-9072-3_14. Adv Exp Med Biol. 2003. PMID: 14713220 No abstract available.
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW; Regeneron Genetics Center, Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: mandel h. Mol Genet Metab Rep. 2020 Dec 30;26:100699. doi: 10.1016/j.ymgmr.2020.100699. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33457206 Free PMC article.
387 results