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Year Number of Results
1993 1
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2003 3
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2005 6
2006 13
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2008 12
2009 11
2010 15
2011 13
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164 results

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Page 1
SALL4-Related Disorders.
Kohlhase J. Kohlhase J. 2004 Aug 16 [updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Aug 16 [updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301547 Free Books & Documents. Review.
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.
Labor force diversity and new firm formation.
Backman M, Kohlhase JE. Backman M, et al. Among authors: kohlhase je. Ann Reg Sci. 2022;68(1):9-28. doi: 10.1007/s00168-021-01084-9. Epub 2021 Nov 21. Ann Reg Sci. 2022. PMID: 34840410 Free PMC article.
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.
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
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
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.
164 results