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

Year Number of Results
1947 1
1948 1
1949 2
1951 1
1953 2
1954 2
1955 5
1957 2
1958 5
1959 9
1960 5
1961 3
1962 1
1963 5
1964 1
1965 3
1967 2
1968 1
1969 2
1970 3
1971 1
1972 2
1973 2
1974 5
1975 2
1976 3
1977 11
1978 6
1979 6
1980 1
1981 3
1982 1
1983 4
1984 4
1985 4
1987 3
1988 1
1989 4
1990 5
1991 1
1992 7
1993 8
1994 3
1995 6
1996 9
1997 10
1998 4
1999 15
2000 6
2001 5
2002 14
2003 12
2004 20
2005 12
2006 17
2007 28
2008 22
2009 20
2010 16
2011 14
2012 9
2013 15
2014 17
2015 18
2016 18
2017 9
2018 17
2019 8
2020 10
2021 17
2022 1
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Article attribute
Article type
Publication date

Search Results

475 results
Results by year
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Page 1
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: kremer h. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
A novel diagnostic approach to patients with myoclonus.
Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, Kremer HP, de Koning TJ, Tijssen MA. Zutt R, et al. Among authors: kremer hp. Nat Rev Neurol. 2015 Dec;11(12):687-97. doi: 10.1038/nrneurol.2015.198. Epub 2015 Nov 10. Nat Rev Neurol. 2015. PMID: 26553594 Review.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: kremer h. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: kremer h. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. Brandsma R, et al. Among authors: kremer hph. Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Eur J Paediatr Neurol. 2019. PMID: 31481303 Review.
Spermatogenesis of Drosophila hydei.
Hennig W, Kremer H. Hennig W, et al. Among authors: kremer h. Int Rev Cytol. 1990;123:129-75. doi: 10.1016/s0074-7696(08)60673-7. Int Rev Cytol. 1990. PMID: 2289847 Review. No abstract available.
Reviewing the genetic causes of spastic-ataxias.
de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. de Bot ST, et al. Among authors: kremer hp. Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. Neurology. 2012. PMID: 23033504 Review.
What's wrong with Tourette syndrome?
Kremer HP. Kremer HP. Parkinsonism Relat Disord. 2007;13 Suppl 3:S385-6. doi: 10.1016/S1353-8020(08)70034-8. Parkinsonism Relat Disord. 2007. PMID: 18267268 Review.
475 results