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Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype
Loann Raud
,
Chandran Ka
,
Isabelle Gourlaouen
,
Isabelle Callebaut
,
Claude Férec
et al.
Journal articles
hal-02343205v1
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Mechanisms of Heparin-Induced Tau Aggregation Revealed by a Single Nanopore
Nicoletta Giamblanco
,
Yann Fichou
,
Jean-Marc Janot
,
Emmanuel Balanzat
,
Songi Han
et al.
Journal articles
hal-03035735v1
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Guillaume Martinez
,
Julie Beurois
,
Denis Dacheux
,
Caroline Cazin
,
Marie Bidart
et al.
Journal articles
hal-03004959v1
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Raphael Leman
,
Pascaline Gaildrat
,
Gerald L. Gac
,
Chandran Ka
,
Yann Fichou
et al.
Journal articles
hal-01910334v1
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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
Raphaël Leman
,
Hélène Tubeuf
,
Sabine Raad
,
Isabelle Tournier
,
Céline Derambure
et al.
Journal articles
hal-03616666v1
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Interaction of Dystrophin Rod Domain with Membrane Phospholipids
Elisabeth Le Rumeur
,
Yann Fichou
,
Sandrine Pottier
,
François Gaboriau
,
Corinne C. Rondeau-Mouro
et al.
Journal articles
hal-02870368v1
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