Researcher
Mariana Guimarães Ramos
Leiden University Medical Centre
Statistics
2 papers found
All papers authored by Mariana Guimarães Ramos
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2022
Janine Reurink 
,
Jaap Oostrik ,
Marco Aben ,
Mariana Guimarães Ramos ,
Emma van Berkel,
Monika Ołdak ,
Erwin van Wijk ,
Hannie Kremer ,
Susanne Roosing ,
Frans P. M. Cremers
,
Jaap Oostrik ,
Marco Aben ,
Mariana Guimarães Ramos ,
Emma van Berkel,
Monika Ołdak ,
Erwin van Wijk ,
Hannie Kremer ,
Susanne Roosing ,
Frans P. M. Cremers
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
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Janine Reurink ,
Erik de Vrieze,
Catherina H. Z. Li ,
Emma van Berkel,
Sanne Broekman,
Marco Aben,
Theo Peters,
Jaap Oostrik,
Kornelia Neveling,
Hanka Venselaar,
Mariana Guimarães Ramos ,
Christian Gilissen,
Galuh D. N. Astuti,
Jordi Corominas Galbany,
Janneke J. C. van Lith-Verhoeven
and 7 other authors
,
Erik de Vrieze,
Catherina H. Z. Li ,
Emma van Berkel,
Sanne Broekman,
Marco Aben,
Theo Peters,
Jaap Oostrik,
Kornelia Neveling,
Hanka Venselaar,
Mariana Guimarães Ramos ,
Christian Gilissen,
Galuh D. N. Astuti,
Jordi Corominas Galbany,
Janneke J. C. van Lith-Verhoeven
and 7 other authors
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
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