Researcher
Irene Valenzuela
Hospital Materno Infantil Vall d'Hebron
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3 papers found
All papers authored by Irene Valenzuela
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2023
Elisabeth Bosch 
,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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Charlotte Gehin ,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
,
Museer A. Lone ,
Winston Lee,
Laura Capolupo ,
Sylvia Ho ,
Adekemi M. Adeyemi,
Erica H. Gerkes,
Alexander Pa A. Stegmann ,
Estrella López-Martín,
Eva Bermejo-Sánchez ,
Beatriz Martínez-Delgado,
Christiane Zweier,
Cornelia Kraus,
Bernt Popp ,
Vincent Strehlow
and 72 other authors
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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2019
Marcello Niceta ,
Domenico Barbuti,
Neerja Gupta ,
Carlos Ruggiero,
Eduardo F. Tizzano ,
Luitgard Graul‐Neumann,
Sabina Barresi ,
Gen Nishimura,
Irene Valenzuela ,
Fermina López‐Grondona,
Paula Fernandez‐Alvarez,
Chiara Leoni ,
Christiane Zweier ,
Andreas Tzschach ,
Emilia Stellacci
and 4 other authors
,
Domenico Barbuti,
Neerja Gupta ,
Carlos Ruggiero,
Eduardo F. Tizzano ,
Luitgard Graul‐Neumann,
Sabina Barresi ,
Gen Nishimura,
Irene Valenzuela ,
Fermina López‐Grondona,
Paula Fernandez‐Alvarez,
Chiara Leoni ,
Christiane Zweier ,
Andreas Tzschach ,
Emilia Stellacci
and 4 other authors
Skeletal abnormalities are common features in Aymé‐Gripp syndrome
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