
Scientific publications
Publications
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2016
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Solution structure of the 5'-terminal hairpin of the 7SK small nuclear RNA
- Sarah Bourbigot
- Anne-Catherine Dock-Bregeon
- Pascal Eberling
- Jérôme Coutant
- Bruno Kieffer
- Isabelle Lebars
RNA ; Volume: 22 ; Page: 1844-1858
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An evolutionary conserved interaction between the Gcm transcription factor and the SF1 nuclear receptor in the female reproductive system
- Pierre Cattenoz
- Claude Delaporte
- Wael Bazzi
- Angela Giangrande
Scientific Reports ; Volume: 6
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Cortical dynamics during cell motility are regulated by CRL3KLHL21 E3 ubiquitin ligase
- Thibault Courtheoux
- Radoslav Enchev
- Fabienne Lampert
- Juan Gerez
- Jochen Beck
- Paola Picotti
- Izabela Sumara
- Matthias Peter
Nature Communications ; Volume: 7
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A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
- Corinne Stoetzel
- Séverine Bär
- Johan-Owen de Craene
- Sophie Scheidecker
- Christelle Etard
- Johana Chicher
- Jennifer R Reck
- Isabelle Perrault
- Véronique Geoffroy
- Kirsley Chennen
- Uwe Strähle
- Philippe Hammann
- Sylvie Friant
- Hélène Dollfus
Nature Communications ; Volume: 7
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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3
- Mathilde Renaud
- Christophe Marcel
- Gabrielle Rudolf
- Mickaël Schaeffer
- Ouhaid Lagha-Boukbiza
- Jean-Baptiste Chanson
- Jamel Chelly
- Mathieu Anheim
- Christine Tranchant
BMC Neurology ; Volume: 16 ; Page: 238
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
- Iris de Lange
- Katherine Helbig
- Sarah Weckhuysen
- Rikke Møller
- Milen Velinov
- Natalia Dolzhanskaya
- Eric Marsh
- Ingo Helbig
- Orrin Devinsky
- Sha Tang
- Heather Mefford
- Candace Myers
- Wim van Paesschen
- Pasquale Striano
- Koen van Gassen
- Marjan van Kempen
- Carolien de Kovel
- Juliette Piard
- Berge Minassian
- Marjan Nezarati
- ...
Journal of Medical Genetics ; Volume: 53 ; Page: 850-858
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