All papers authored by Carlo Rivolta
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Ji Hoon Han 
,
Kim Rodenburg ,
Tamar Hayman ,
Giacomo Calzetti ,
Karolina Kaminska ,
Mathieu Quinodoz ,
Molly Marra ,
Sandrine Wallerich,
Gilad Allon,
L. Ingeborgh van den Born ,
Zoltán Z. Nagy,
Krisztina Knézy,
Yumei Li ,
Rui Chen ,
Mirella Telles Salgueiro Barboni
and 11 other authors
,
Kim Rodenburg ,
Tamar Hayman ,
Giacomo Calzetti ,
Karolina Kaminska ,
Mathieu Quinodoz ,
Molly Marra ,
Sandrine Wallerich,
Gilad Allon,
L. Ingeborgh van den Born ,
Zoltán Z. Nagy,
Krisztina Knézy,
Yumei Li ,
Rui Chen ,
Mirella Telles Salgueiro Barboni
and 11 other authors
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
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Telmo Cortinhal ,
Cristina Santos ,
Sara Vaz-Pereira ,
Ana Marta ,
Lilianne Duarte ,
Vitor Miranda ,
José Costa ,
Ana Berta Sousa ,
Virginie G. Peter ,
Karolina Kaminska ,
Carlo Rivolta ,
Ana Luísa Carvalho,
Jorge Saraiva,
Célia Azevedo Soares ,
Rufino Silva
and 3 other authors
,
Cristina Santos ,
Sara Vaz-Pereira ,
Ana Marta ,
Lilianne Duarte ,
Vitor Miranda ,
José Costa ,
Ana Berta Sousa ,
Virginie G. Peter ,
Karolina Kaminska ,
Carlo Rivolta ,
Ana Luísa Carvalho,
Jorge Saraiva,
Célia Azevedo Soares ,
Rufino Silva
and 3 other authors
Genetic profile of syndromic retinitis pigmentosa in Portugal
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2023
Béatrice Bocquet ,
Caroline Borday,
Nejla Erkilic,
Daria Mamaeva ,
Alicia Donval,
Christel Masson,
Karine Parain,
Karolina Kaminska ,
Mathieu Quinodoz ,
Irene Perea-Romero ,
Gema Garcia-Garcia,
Carla Jimenez-Medina,
Hassan Boukhaddaoui,
Arthur Coget,
Nicolas Leboucq
and 15 other authors
,
Caroline Borday,
Nejla Erkilic,
Daria Mamaeva ,
Alicia Donval,
Christel Masson,
Karine Parain,
Karolina Kaminska ,
Mathieu Quinodoz ,
Irene Perea-Romero ,
Gema Garcia-Garcia,
Carla Jimenez-Medina,
Hassan Boukhaddaoui,
Arthur Coget,
Nicolas Leboucq
and 15 other authors
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
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Virginie G. Peter ,
Karolina Kaminska ,
Cristina Santos ,
Mathieu Quinodoz ,
Francesca Cancellieri ,
Katarina Cisarova ,
Rosanna Pescini Gobert ,
Raquel Rodrigues,
Sónia Custódio,
Liliana P. Paris ,
Ana Berta Sousa ,
Luisa Coutinho Santos ,
Carlo Rivolta
Download from academic.oup.com
,
Karolina Kaminska ,
Cristina Santos ,
Mathieu Quinodoz ,
Francesca Cancellieri ,
Katarina Cisarova ,
Rosanna Pescini Gobert ,
Raquel Rodrigues,
Sónia Custódio,
Liliana P. Paris ,
Ana Berta Sousa ,
Luisa Coutinho Santos ,
Carlo Rivolta
Download from academic.oup.com
2022
Stijn Van de Sompele ,
Kent W. Small ,
Munevver Burcu Cicekdal ,
Víctor López Soriano,
Eva D’haene,
Fadi S. Shaya ,
Steven Agemy,
Thijs Van der Snickt ,
Alfredo Dueñas Rey ,
Toon Rosseel ,
Mattias Van Heetvelde ,
Sarah Vergult ,
Irina Balikova ,
Arthur A. Bergen ,
Camiel J. F. Boon
and 14 other authors
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,
Kent W. Small ,
Munevver Burcu Cicekdal ,
Víctor López Soriano,
Eva D’haene,
Fadi S. Shaya ,
Steven Agemy,
Thijs Van der Snickt ,
Alfredo Dueñas Rey ,
Toon Rosseel ,
Mattias Van Heetvelde ,
Sarah Vergult ,
Irina Balikova ,
Arthur A. Bergen ,
Camiel J. F. Boon
and 14 other authors
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2021
Sébastien Lebon ,
Mathieu Quinodoz,
Virginie G. Peter,
Carole Gengler,
Gaëlle Blanchard,
Viviane Cina,
Belinda Campos-Xavier,
Carlo Rivolta ,
Andrea Superti-Furga
Download from doi.org
,
Mathieu Quinodoz,
Virginie G. Peter,
Carole Gengler,
Gaëlle Blanchard,
Viviane Cina,
Belinda Campos-Xavier,
Carlo Rivolta ,
Andrea Superti-Furga
Download from doi.org
Lila Allou,
Sara Balzano,
Andreas Magg ,
Mathieu Quinodoz,
Beryl Royer-Bertrand,
Robert Schöpflin,
Wing-Lee Chan,
Carlos E. Speck-Martins,
Daniel Rocha Carvalho,
Luciano Farage ,
Charles Marques Lourenço ,
Regina Albuquerque,
Srilakshmi Rajagopal,
Sheela Nampoothiri ,
Belinda Campos-Xavier
and 18 other authors
,
Mathieu Quinodoz,
Beryl Royer-Bertrand,
Robert Schöpflin,
Wing-Lee Chan,
Carlos E. Speck-Martins,
Daniel Rocha Carvalho,
Luciano Farage ,
Charles Marques Lourenço ,
Regina Albuquerque,
Srilakshmi Rajagopal,
Sheela Nampoothiri ,
Belinda Campos-Xavier
and 18 other authors
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
Download from www.nature.com
2020
Virginie G. Peter ,
Mathieu Quinodoz,
Silvia Sadio,
Sebastian Held,
Márcia Rodrigues ,
Marta Soares,
Ana Berta Sousa,
Luisa Coutinho Santos,
Luisa Coutinho Santos,
Markus Damme,
Carlo Rivolta
,
Mathieu Quinodoz,
Silvia Sadio,
Sebastian Held,
Márcia Rodrigues ,
Marta Soares,
Ana Berta Sousa,
Luisa Coutinho Santos,
Luisa Coutinho Santos,
Markus Damme,
Carlo Rivolta
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
Download from onlinelibrary.wiley.com
Frank Peelman ,
Pietro Farinelli ,
Toon Rosseel ,
Nina Lambrechts ,
Kirsten A. Wunderlich ,
Matias Wagner ,
Konstantinos Nikopoulos ,
Giulia Ascari ,
Pernille Martens,
Irina Balikova ,
Lara Derycke ,
Gabriële Holtappels,
Olga Krysko ,
Thalia Van Laethem,
Sarah De Jaegere
and 16 other authors
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,
Pietro Farinelli ,
Toon Rosseel ,
Nina Lambrechts ,
Kirsten A. Wunderlich ,
Matias Wagner ,
Konstantinos Nikopoulos ,
Giulia Ascari ,
Pernille Martens,
Irina Balikova ,
Lara Derycke ,
Gabriële Holtappels,
Olga Krysko ,
Thalia Van Laethem,
Sarah De Jaegere
and 16 other authors
Download from api.wiley.com
2017
Stefano Volpi ,
Yasuhiro Yamazaki,
Patrick M. Brauer,
Ellen van Rooijen,
Atsuko Hayashida,
Anne Slavotinek,
Hye Sun Kuehn,
Maja Di Rocco,
Carlo Rivolta ,
Ileana Bortolomai ,
Likun Du ,
Kerstin Felgentreff,
Lisa Ott de Bruin,
Kazutaka Hayashida,
George Freedman
and 24 other authors
,
Yasuhiro Yamazaki,
Patrick M. Brauer,
Ellen van Rooijen,
Atsuko Hayashida,
Anne Slavotinek,
Hye Sun Kuehn,
Maja Di Rocco,
Carlo Rivolta ,
Ileana Bortolomai ,
Likun Du ,
Kerstin Felgentreff,
Lisa Ott de Bruin,
Kazutaka Hayashida,
George Freedman
and 24 other authors
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
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