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Author/Creator Bosio, Mattia

1. Allele balance bias identifies systematic genotyping errors and false disease associations. Issue 1 (23rd November 2018)

Authors:
Muyas, Francesc; Bosio, Mattia; Puig, Anna; Susak, Hana; Domènech, Laura; Escaramis, Georgia; Zapata, Luis; Demidov, German; Estivill, Xavier; Rabionet, Raquel; Ossowski, Stephan
Journal:
Human mutation
Issue:
Volume 40:Issue 1(2019)
Page Start:
115
Record Type:
Journal Article
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2. Differential expression of long non‐coding RNAs are related to proliferation and histological diversity in follicular lymphomas. (22nd November 2018)

Authors:
Roisman, Alejandro; Castellano, Giancarlo; Navarro, Alba; Gonzalez‐Farre, Blanca; Pérez‐Galan, Patricia; Esteve‐Codina, Anna; Dabad, Marc; Heath, Simon; Gut, Marta; Bosio, Mattia; Bellot, Pau; Salembier, Philippe; Oliveras, Albert; Slavutsky, Irma; Magnano, Laura; Horn, Heike; Rosenwald, Andreas;...
Journal:
British journal of haematology
Issue:
Volume 184:Number 3(2019)
Page Start:
373
Record Type:
Journal Article
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3. EDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics. Issue 7 (21st May 2019)

Authors:
Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun; Schott, Jean‐Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier; Ossowski, Stephan
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
865
Record Type:
Journal Article
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4. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Issue 11 (17th August 2017)

Authors:
Wambach, Jennifer A.; Stettner, Georg M.; Haack, Tobias B.; Writzl, Karin; Škofljanec, Andreja; Maver, Aleš; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M.; Grange, Dorothy K.; Wilichowski, Ekkehard; Troxel...
Journal:
Human mutation
Issue:
Volume 38:Issue 11(2017)
Page Start:
1477
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗