All papers authored by Juan Pié
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2023
Ana Latorre-Pellicer 
,
Laura Trujillano Lidón,
Laura Trujillano ,
Julia del Rincón ,
Mónica Peña-Marco,
Marta Gil-Salvador ,
Marta Gil Salvador,
Cristina Lucia-Campos,
María Arnedo ,
Beatriz Puisac ,
Feliciano J. Ramos ,
Ariadna Ayerza-Casas ,
Juan Pié
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,
Laura Trujillano Lidón,
Laura Trujillano ,
Julia del Rincón ,
Mónica Peña-Marco,
Marta Gil-Salvador ,
Marta Gil Salvador,
Cristina Lucia-Campos,
María Arnedo ,
Beatriz Puisac ,
Feliciano J. Ramos ,
Ariadna Ayerza-Casas ,
Juan Pié
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2022
María Arnedo ,
Ángela Ascaso ,
Ana Latorre-Pellicer ,
Cristina Lucia-Campos,
Marta Gil-Salvador ,
Ariadna Ayerza-Casas ,
María Jesús Pablo,
Paulino Gómez-Puertas ,
Feliciano J. Ramos ,
Gloria Bueno-Lozano ,
Juan Pié ,
Beatriz Puisac
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,
Ángela Ascaso ,
Ana Latorre-Pellicer ,
Cristina Lucia-Campos,
Marta Gil-Salvador ,
Ariadna Ayerza-Casas ,
María Jesús Pablo,
Paulino Gómez-Puertas ,
Feliciano J. Ramos ,
Gloria Bueno-Lozano ,
Juan Pié ,
Beatriz Puisac
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Cristina Lucia-Campos,
Irene Valenzuela,
Ana Latorre-Pellicer ,
David Ros-Pardo,
Marta Gil-Salvador,
María Arnedo ,
Beatriz Puisac,
Neus Castells,
Alberto Plaja,
Anna Tenes,
Ivon Cuscó,
Laura Trujillano Lidón ,
Laura Trujillano,
Feliciano J. Ramos ,
Eduardo F. Tizzano
and 2 other authors
,
David Ros-Pardo,
Marta Gil-Salvador,
María Arnedo ,
Beatriz Puisac,
Neus Castells,
Alberto Plaja,
Anna Tenes,
Ivon Cuscó,
Laura Trujillano Lidón ,
Laura Trujillano,
Feliciano J. Ramos ,
Eduardo F. Tizzano
and 2 other authors
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
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Ángel Matute-Llorente ,
Ángela Ascaso,
Ana Latorre-Pellicer ,
Beatriz Puisac,
Laura Trujillano ,
Elena Llorente,
Juan José Puente Lanzarote,
Juan José Puente-Lanzarote ,
Ariadna Ayerza-Casas ,
Ariadna Ayerza Casas,
María Arnedo ,
Luis A. Moreno ,
Feliciano Ramos,
Juan Pié ,
José A. Casajus
and 1 other authors
,
Ángela Ascaso,
Ana Latorre-Pellicer ,
Beatriz Puisac,
Laura Trujillano ,
Elena Llorente,
Juan José Puente Lanzarote,
Juan José Puente-Lanzarote ,
Ariadna Ayerza-Casas ,
Ariadna Ayerza Casas,
María Arnedo ,
Luis A. Moreno ,
Feliciano Ramos,
Juan Pié ,
José A. Casajus
and 1 other authors
Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome
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2020
Ana Latorre-Pellicer ,
Ángela Ascaso,
Laura Trujillano ,
Marta Gil-Salvador ,
Maria Arnedo ,
Cristina Lucia-Campos,
Rebeca Antoñanzas-Pérez,
Iñigo Marcos-Alcalde ,
Ilaria Parenti ,
Gloria Bueno-Lozano ,
Antonio Musio ,
Beatriz Puisac,
Frank J. Kaiser,
Feliciano J. Ramos,
Paulino Gómez-Puertas
and 1 other authors
,
Ángela Ascaso,
Laura Trujillano ,
Marta Gil-Salvador ,
Maria Arnedo ,
Cristina Lucia-Campos,
Rebeca Antoñanzas-Pérez,
Iñigo Marcos-Alcalde ,
Ilaria Parenti ,
Gloria Bueno-Lozano ,
Antonio Musio ,
Beatriz Puisac,
Frank J. Kaiser,
Feliciano J. Ramos,
Paulino Gómez-Puertas
and 1 other authors
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
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Antonie D. Kline,
Joanna F. Moss,
Angelo Selicorni,
Anne-Marie Bisgaard,
Matthew A. Deardorff,
Peter M. Gillett,
Stacey L. Ishman,
Lynne M. Kerr,
Alex V. Levin,
Paul A. Mulder,
Feliciano J. Ramos,
Jolanta Wierzba,
Paola Francesca Ajmone,
David Axtell,
Natalie Blagowidow
and 28 other authors
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
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Beatriz Puisac,
Iñigo Marcos-Alcalde,
María Hernández-Marcos,
Pilar Tobajas Morlana,
Alina Levtova,
Bernd Schwahn,
Corinne DeLaet,
Baiba Lace,
Paulino Gómez-Puertas ,
Juan Pié
Download from doi.org
,
Juan Pié
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Andrea Björkman,
Likun Du,
Mirjam van der Burg,
Valerie Cormier-Daire,
Guntram Borck,
Juan Pié ,
Britt-Marie Anderlid,
Lennart Hammarström,
Lena Ström,
Jean-Pierre de Villartay,
David Kipling,
Deborah Dunn Walters,
Deborah Dunn Walters,
Qiang Pan-Hammarström
,
Britt-Marie Anderlid,
Lennart Hammarström,
Lena Ström,
Jean-Pierre de Villartay,
David Kipling,
Deborah Dunn Walters,
Deborah Dunn Walters,
Qiang Pan-Hammarström
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome
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Sylvia Huisman ,
Paul A. Mulder,
Egbert Redeker,
Ingrid Bader,
Anne-Marie Bisgaard,
Alice Brooks,
Anna Cereda,
Constanza Cinca,
Dinah Clark,
Valerie Cormier-Daire,
Matthew A. Deardorff,
Karin Diderich,
Mariet Elting,
Anthonie van Essen,
David FitzPatrick
and 33 other authors
,
Paul A. Mulder,
Egbert Redeker,
Ingrid Bader,
Anne-Marie Bisgaard,
Alice Brooks,
Anna Cereda,
Constanza Cinca,
Dinah Clark,
Valerie Cormier-Daire,
Matthew A. Deardorff,
Karin Diderich,
Mariet Elting,
Anthonie van Essen,
David FitzPatrick
and 33 other authors
Phenotypes and genotypes in individuals with SMC1A variants
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2016
Juan Pié ,
Beatriz Puisac,
Maria Hernández-Marcos,
Maria Esperanza Teresa-Rodrigo,
Maria Gil-Rodríguez,
Carolina Baquero-Montoya,
Maria Ramos-Cáceres,
Maria Bernal,
Inés Bueno,
Paulino Gómez-Puertas,
Feliciano J. Ramos,
Ariadna Ayerza-Casas
,
Beatriz Puisac,
Maria Hernández-Marcos,
Maria Esperanza Teresa-Rodrigo,
Maria Gil-Rodríguez,
Carolina Baquero-Montoya,
Maria Ramos-Cáceres,
Maria Bernal,
Inés Bueno,
Paulino Gómez-Puertas,
Feliciano J. Ramos,
Ariadna Ayerza-Casas
Special cases in Cornelia de Lange syndrome: The Spanish experience
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I. Parenti ,
C. Gervasini,
J. Pozojevic,
K. S. Wendt,
E. Watrin,
J. Azzollini,
D. Braunholz,
K. Buiting,
A. Cereda,
H. Engels,
L. Garavelli,
R. Glazar,
B. Graffmann,
L. Larizza,
H. J. Lüdecke
and 14 other authors
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,
C. Gervasini,
J. Pozojevic,
K. S. Wendt,
E. Watrin,
J. Azzollini,
D. Braunholz,
K. Buiting,
A. Cereda,
H. Engels,
L. Garavelli,
R. Glazar,
B. Graffmann,
L. Larizza,
H. J. Lüdecke
and 14 other authors
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María E. Teresa-Rodrigo,
Juliane Eckhold,
Beatriz Puisac,
Jelena Pozojevic,
Ilaria Parenti ,
Carolina Baquero-Montoya,
María C. Gil-Rodríguez,
Diana Braunholz,
Andreas Dalski,
María Hernández-Marcos,
Ariadna Ayerza,
María L. Bernal,
Feliciano J. Ramos,
Dagmar Wieczorek,
Gabriele Gillessen-Kaesbach
and 2 other authors
Download from downloads.hindawi.com
,
Carolina Baquero-Montoya,
María C. Gil-Rodríguez,
Diana Braunholz,
Andreas Dalski,
María Hernández-Marcos,
Ariadna Ayerza,
María L. Bernal,
Feliciano J. Ramos,
Dagmar Wieczorek,
Gabriele Gillessen-Kaesbach
and 2 other authors
Download from downloads.hindawi.com
2015
María Concepción Gil-Rodríguez,
Matthew A. Deardorff,
Morad Ansari,
Christopher A. Tan,
Ilaria Parenti ,
Carolina Baquero-Montoya,
Lilian B. Ousager,
Beatriz Puisac,
María Hernández-Marcos,
María Esperanza Teresa-Rodrigo,
Iñigo Marcos-Alcalde,
Jan-Jaap Wesselink,
Silvia Lusa-Bernal,
Emilia K. Bijlsma,
Diana Braunholz
and 47 other authors
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,
Carolina Baquero-Montoya,
Lilian B. Ousager,
Beatriz Puisac,
María Hernández-Marcos,
María Esperanza Teresa-Rodrigo,
Iñigo Marcos-Alcalde,
Jan-Jaap Wesselink,
Silvia Lusa-Bernal,
Emilia K. Bijlsma,
Diana Braunholz
and 47 other authors
Download from api.wiley.com
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