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

Year Number of Results
1993 2
1996 1
1998 1
1999 3
2000 8
2001 3
2002 5
2003 3
2004 7
2005 6
2006 13
2007 11
2008 12
2009 11
2010 15
2011 13
2012 9
2013 9
2014 12
2015 11
2016 10
2017 6
2018 4
2019 5
2020 1
2021 2
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161 results
Results by year
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Page 1
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Among authors: kohlhase j. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
SALL4-Related Disorders.
Kohlhase J. Kohlhase J. 2004 Aug 16 [updated 2015 Jan 15]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2004 Aug 16 [updated 2015 Jan 15]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301547 Free Books & Documents. Review.
Townes-Brocks Syndrome.
Kohlhase J. Kohlhase J. 2007 Jan 24 [updated 2016 Jan 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2007 Jan 24 [updated 2016 Jan 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301618 Free Books & Documents. Review.
Cerebellar Involvement in DYT-THAP1 Dystonia.
Nikolov P, Hassan SS, Aytulun A, Hartmann CJ, Kohlhase J, Schnitzler A, Albrecht P, Minnerop M, Groiss SJ. Nikolov P, et al. Among authors: kohlhase j. Cerebellum. 2019 Oct;18(5):969-971. doi: 10.1007/s12311-019-01062-0. Cerebellum. 2019. PMID: 31367947
Alitretinoin in punctate palmoplantar keratoderma.
Yilmaz P, Medvecz M, Kohlhase J, Küsel J, Fischer J, Has C. Yilmaz P, et al. Among authors: kohlhase j. Br J Dermatol. 2019 Apr;180(4):931-932. doi: 10.1111/bjd.17336. Epub 2018 Dec 19. Br J Dermatol. 2019. PMID: 30339730 No abstract available.
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Has C, et al. Among authors: kohlhase j. Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. Hum Mutat. 2011. PMID: 21936020 Review.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP. Cöktü S, et al. Among authors: kohlhase j. Br J Cancer. 2020 Aug;123(4):619-623. doi: 10.1038/s41416-020-0911-x. Epub 2020 May 26. Br J Cancer. 2020. PMID: 32451468 Free PMC article.
Pilomatricomas in Rubinstein-Taybi syndrome.
Papathemeli D, Schulzendorff N, Kohlhase J, Göppner D, Franke I, Gollnick H. Papathemeli D, et al. Among authors: kohlhase j. J Dtsch Dermatol Ges. 2015 Mar;13(3):240-2. doi: 10.1111/ddg.12504. J Dtsch Dermatol Ges. 2015. PMID: 25721637 English, German. No abstract available.
Epilepsy in Aicardi-Goutières syndrome.
Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA. Ramantani G, et al. Among authors: kohlhase j. Eur J Paediatr Neurol. 2014 Jan;18(1):30-7. doi: 10.1016/j.ejpn.2013.07.005. Epub 2013 Sep 5. Eur J Paediatr Neurol. 2014. PMID: 24011626
161 results
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