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Results by year

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

Year Number of Results
1983 2
1984 3
1985 2
1986 1
1987 2
1988 4
1989 2
1990 3
1991 7
1992 1
1993 6
1994 5
1995 5
1996 7
1997 6
1998 9
1999 12
2000 18
2001 13
2002 7
2003 3
2004 2
2005 3
2006 5
2007 7
2008 5
2009 3
2010 4
2011 9
2012 9
2013 11
2014 3
2015 8
2016 7
2017 7
2018 6
2019 8
2020 5
2021 6
2022 7
2023 1
2024 0

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Article type

Publication date

Search Results

205 results

Results by year

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Page 1
Deafness-Dystonia-Optic Neuronopathy Syndrome.
Tranebjærg L. Tranebjærg L. 2003 Feb 6 [updated 2019 Nov 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Feb 6 [updated 2019 Nov 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301395 Free Books & Documents. Review.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: tranebjaerg l. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
WFS1 Spectrum Disorder.
Barrett T, Tranebjærg L, Gupta R, McCarthy L, Rendtorff ND, Williams D, Wright B, Dias R. Barrett T, et al. Among authors: tranebjaerg l. 2009 Feb 24 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Feb 24 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301750 Free Books & Documents. Review.
Jervell and Lange-Nielsen Syndrome.
Tranebjærg L, Samson RA, Green GE. Tranebjærg L, et al. 2002 Jul 29 [updated 2017 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Jul 29 [updated 2017 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301579 Free Books & Documents. Review.
XLMR genes: update 1996.
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. Lubs HA, et al. Among authors: tranebjaerg l. Am J Med Genet. 1996 Jul 12;64(1):147-57. doi: 10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826465 Review.
Adaptive Processes in Hearing.
Santurette S, Christensen-Dalsgaard J, Tranebjærg L, Andersen T, Poulsen T, Dau T. Santurette S, et al. Among authors: tranebjaerg l. Trends Hear. 2018 Jan-Dec;22:2331216518762261. doi: 10.1177/2331216518762261. Trends Hear. 2018. PMID: 29532740 Free PMC article.
The Jervell and Lange-Nielsen syndrome.
Bitner-Glindzicz M, Tranebjaerg L. Bitner-Glindzicz M, et al. Among authors: tranebjaerg l. Adv Otorhinolaryngol. 2000;56:45-52. doi: 10.1159/000059080. Adv Otorhinolaryngol. 2000. PMID: 10868213 Review. No abstract available.
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Among authors: tranebjaerg l. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
DFNA7.
Tranebjaerg L, Elverland HH, Fagerheim T. Tranebjaerg L, et al. Adv Otorhinolaryngol. 2000;56:97-100. doi: 10.1159/000059074. Adv Otorhinolaryngol. 2000. PMID: 10868219 No abstract available.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. Bayat A, et al. Among authors: tranebjaerg l. Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26. Epilepsia. 2020. PMID: 32452540 Review.
205 results