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Author/Creator Hansen, Thomas Van Overeem

1. Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing. (1st February 2014)

Authors:
Whiley, Phillip J; de la Hoya, Miguel; Thomassen, Mads; Becker, Alexandra; Brandão, Rita; Pedersen, Inge Sokilde; Montagna, Marco; Menéndez, Mireia; Quiles, Francisco; Gutiérrez-Enríquez, Sara; De Leeneer, Kim; Tenés, Anna; Montalban, Gemma; Tserpelis, Demis; Yoshimatsu, Toshio; Tirapo, Carole; R...
Journal:
Clinical chemistry
Issue:
Volume 60:Number 2(2014)
Page Start:
341
Record Type:
Journal Article
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2. Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes. Issue 2 (30th June 2022)

Authors:
Stoltze, Ulrik Kristoffer; Hansen, Thomas Van Overeem; Brok, Jesper Sune; Grønskov, Karen; Tumer, Asuman Z; Ahlborn, Lise Barlebo; Schmiegelow, Kjeld; Wadt, Karin A W
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 2(2023)
Page Start:
128
Record Type:
Journal Article
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3. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. Issue 1 (10th May 2017)

Authors:
Moghadasi, Setareh; Meeks, Huong D; Vreeswijk, Maaike PG; Janssen, Linda AM; Borg, Åke; Ehrencrona, Hans; Paulsson-Karlsson, Ylva; Wappenschmidt, Barbara; Engel, Christoph; Gehrig, Andrea; Arnold, Norbert; Hansen, Thomas Van Overeem; Thomassen, Mads; Jensen, Uffe Birk; Kruse, Torben A; Ejlertsen,...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
15
Record Type:
Journal Article
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4. Update of penetrance estimates in Birt-Hogg-Dubé syndrome. Issue 4 (27th February 2023)

Authors:
Bruinsma, Fiona Jane; Dowty, James G; Win, Aung Ko; Goddard, Laura C; Agrawal, Prachi; Attina', Domenico; Bissada, Nabil; De Luise, Monica; Eisen, Daniel B; Furuya, Mitsuko; Gasparre, Giuseppe; Genuardi, Maurizio; Gerdes, Anne-Marie; Hansen, Thomas Van Overeem; Houweling, Arjan C; Johannesma, Pau...
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 4(2023)
Page Start:
317
Record Type:
Journal Article
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