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

Year Number of Results
2002 1
2003 7
2004 6
2005 6
2006 1
2007 4
2008 5
2009 2
2010 7
2011 5
2012 4
2013 7
2014 6
2015 3
2016 4
2017 2
2018 3
2019 1
2021 2
2022 1
2023 2
2024 1

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72 results

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Page 1
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: tinschert s. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. Among authors: tinschert s. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
Segmental neurofibromatosis.
Schultz ES, Kaufmann D, Tinschert S, Schell H, von den Driesch P, Schuler G. Schultz ES, et al. Among authors: tinschert s. Dermatology. 2002;204(4):296-7. doi: 10.1159/000063363. Dermatology. 2002. PMID: 12077526
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: tinschert s. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.
Maass PG, Weise A, Rittscher K, Lichtenwald J, Barutcu AR, Liehr T, Aydin A, Wefeld-Neuenfeld Y, Pölsler L, Tinschert S, Rinn JL, Luft FC, Bähring S. Maass PG, et al. Among authors: tinschert s. EMBO J. 2018 Aug 1;37(15):e96257. doi: 10.15252/embj.201696257. Epub 2018 Jun 19. EMBO J. 2018. PMID: 29921581 Free PMC article.
Craniofacial hyperostoses in Proteus syndrome -- a case report.
Adolphs N, Tinschert S, Bier J, Klein M. Adolphs N, et al. Among authors: tinschert s. J Craniomaxillofac Surg. 2004 Dec;32(6):391-4. doi: 10.1016/j.jcms.2004.06.007. J Craniomaxillofac Surg. 2004. PMID: 15555524 Review.
Macrocerebellum: significance and pathogenic considerations.
Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E. Poretti A, et al. Among authors: tinschert s. Cerebellum. 2012 Dec;11(4):1026-36. doi: 10.1007/s12311-012-0379-1. Cerebellum. 2012. PMID: 22528964 Free article.
Wnt signaling and Dupuytren's disease.
Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR, Nothnagel M, Franke A, Klopp N, Wichmann HE, Nürnberg P, Giele H, Ophoff RA, Wijmenga C; Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines Cohort Study; BSSH-GODD Consortium. Dolmans GH, et al. Among authors: tinschert s. N Engl J Med. 2011 Jul 28;365(4):307-17. doi: 10.1056/NEJMoa1101029. Epub 2011 Jul 6. N Engl J Med. 2011. PMID: 21732829 Free article.
72 results