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

Year Number of Results
1993 1
1995 2
1996 1
1997 2
1998 1
1999 1
2001 1
2002 1
2003 1
2004 1
2005 2
2006 2
2007 2
2008 5
2009 4
2010 2
2011 1
2012 5
2013 3
2014 1
2015 2
2016 4
2017 4
2018 1
2020 3
2021 7
2022 5
2023 8
2024 7

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67 results

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Page 1
Androgen receptor mutations.
Brinkmann AO, Jenster G, Ris-Stalpers C, van der Korput JA, Brüggenwirth HT, Boehmer AL, Trapman J. Brinkmann AO, et al. Among authors: bruggenwirth ht. J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):443-8. doi: 10.1016/0960-0760(95)00090-m. J Steroid Biochem Mol Biol. 1995. PMID: 7626493 Free article. Review.
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Brosens E, Peters NCJ, van Weelden KS, Bendixen C, Brouwer RWW, Sleutels F, Bruggenwirth HT, van Ijcken WFJ, Veenma DCM, Otter SCMC, Wijnen RMH, Eggink AJ, van Dooren MF, Reutter HM, Rottier RJ, Schnater JM, Tibboel D, de Klein A. Brosens E, et al. Among authors: bruggenwirth ht. Front Pediatr. 2022 Feb 3;9:800915. doi: 10.3389/fped.2021.800915. eCollection 2021. Front Pediatr. 2022. PMID: 35186825 Free PMC article. Review.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Among authors: bruggenwirth ht. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
Bever YV, Brüggenwirth HT, Wolffenbuttel KP, Dessens AB, Groenenberg IAL, Knapen MFCM, De Baere E, Cools M, van Ravenswaaij-Arts CMA, Sikkema-Raddatz B, Claahsen-van der Grinten H, Kempers M, Rinne T, Hersmus R, Looijenga L, Hannema SE. Bever YV, et al. Among authors: bruggenwirth ht. J Med Genet. 2020 Sep;57(9):581-589. doi: 10.1136/jmedgenet-2019-106354. Epub 2020 Apr 17. J Med Genet. 2020. PMID: 32303604 Free PMC article. Review.
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Pellikaan K, van Woerden GM, Kleinendorst L, Rosenberg AGW, Horsthemke B, Grosser C, van Zutven LJCM, van Rossum EFC, van der Lely AJ, Resnick JL, Brüggenwirth HT, van Haelst MM, de Graaff LCG. Pellikaan K, et al. Among authors: bruggenwirth ht. Genes (Basel). 2021 Jun 7;12(6):875. doi: 10.3390/genes12060875. Genes (Basel). 2021. PMID: 34200226 Free PMC article. Review.
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Weiss MM, et al. Among authors: bruggenwirth ht. Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Hum Mutat. 2013. PMID: 23776008 Review.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: bruggenwirth ht. Genet Med. 2022 Oct;24(10):2112-2122. doi: 10.1016/j.gim.2022.07.009. Epub 2022 Sep 2. Genet Med. 2022. PMID: 36053285 Free article.
Clinical aspects of a large group of adults with Angelman syndrome.
den Besten I, de Jong RF, Geerts-Haages A, Bruggenwirth HT, Koopmans M; ENCORE Expertise Center for AS 18+; Brooks A, Elgersma Y, Festen DAM, Valstar MJ. den Besten I, et al. Among authors: bruggenwirth ht. Am J Med Genet A. 2021 Jan;185(1):168-181. doi: 10.1002/ajmg.a.61940. Epub 2020 Oct 27. Am J Med Genet A. 2021. PMID: 33108066 Free PMC article.
67 results