All papers authored by Luis Perez-Jurado
Refreshing results…
2023
Dong Li 
,
Qin Wang,
Allan Bayat,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
,
Qin Wang,
Allan Bayat,
Mark R. Battig ,
Yijing Zhou,
Daniëlle G. M. Bosch,
Gijs van Haaften ,
Leslie Granger,
Andrea K. Petersen,
Luis A. Pérez-Jurado ,
Gemma Aznar-Laín,
Anushree Aneja,
Miroslava Hancarova,
Sarka Bendova,
Martin Schwarz
and 139 other authors
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
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2020
Lachlan A. Jolly ,
Euan Parnell ,
Alison E. Gardner,
Mark A. Corbett ,
Luis A. Pérez-Jurado ,
Marie Shaw,
Gaetan Lesca,
Catherine Keegan,
Michael C. Schneider,
Emily Griffin,
Felicitas Maier,
Courtney Kiss,
Andrea Guerin,
Kathleen Crosby,
Kenneth Rosenbaum
and 18 other authors
,
Euan Parnell ,
Alison E. Gardner,
Mark A. Corbett ,
Luis A. Pérez-Jurado ,
Marie Shaw,
Gaetan Lesca,
Catherine Keegan,
Michael C. Schneider,
Emily Griffin,
Felicitas Maier,
Courtney Kiss,
Andrea Guerin,
Kathleen Crosby,
Kenneth Rosenbaum
and 18 other authors
Missense variant contribution to USP9X-female syndrome
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2016
Mj MacHiela ,
Weiyin Zhou,
Q. Yang,
Pc Yang,
Eric Karlins,
Qi Yang,
Ka Zanetti,
Rg Ziegler,
Belynda Hicks ,
Casey Dagnall ,
Christopher Hautman,
Jn Sampson,
Christian Cc Abnet ,
Am Ruder,
Christopher Amos
and 164 other authors
,
Weiyin Zhou,
Q. Yang,
Pc Yang,
Eric Karlins,
Qi Yang,
Ka Zanetti,
Rg Ziegler,
Belynda Hicks ,
Casey Dagnall ,
Christopher Hautman,
Jn Sampson,
Christian Cc Abnet ,
Am Ruder,
Christopher Amos
and 164 other authors
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
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