From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Martinez-Monseny, Antonio, Cuadras, Daniel, Bolasell, Mercè, Muchart, Jordi, Arjona, César, Borregan, Mar, Algrabli, Adi, Montero, Raquel, Artuch, Rafael, Velázquez-Fragua, Ramón, Macaya, Alfons, Pérez-Cerdá, Celia, Pérez-Dueñas, Belén, Pérez, Belén, Serrano, Mercedes
Published in Journal of medical genetics (01.04.2019)
Published in Journal of medical genetics (01.04.2019)
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Journal Article
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome
Lazo, Pedro A, García, Juan L, Gómez-Puertas, Paulino, Marcos-Alcalde, Íñigo, Arjona, Cesar, Villarroel, Alvaro, González-Sarmiento, Rogelio, Fons, Carmen
Published in International journal of molecular sciences (23.06.2020)
Published in International journal of molecular sciences (23.06.2020)
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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Jou, Cristina, Ortigoza-Escobar, Juan D, O'Callaghan, Maria M, Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Published in Journal of clinical medicine (10.01.2019)
Published in Journal of clinical medicine (10.01.2019)
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Journal Article
Senses of Sen: reflections on Amartya Sen's ideas of justice
Arjona, César, Jamal, Arif A., Menkel-Meadow, Carrie, Ramraj, Victor V., Satiro, Francisco
Published in International journal of law in context (01.03.2012)
Published in International journal of law in context (01.03.2012)
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Journal Article
Okur‐Chung neurodevelopmental syndrome in a patient from Spain
Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Arjona, César, Bolasell, Mercè, Casano, Paula, Muchart, Jordi, Ramos, Federico, Martorell, Loreto, Palau, Francesc, García‐Alix, Alfredo, Serrano, Mercedes
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology
Giménez, Carles, Sarasa, Jonás, Arjona, César, Vilamajó, Ester, Martínez-Pasarell, Olga, Wheeler, Kenny, Valls, Gemma, Garcia-Guixé, Elena, Wells, Dagan
Published in Reproductive biomedicine online (01.12.2015)
Published in Reproductive biomedicine online (01.12.2015)
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Journal Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
Pillai, Nishitha R., Yubero, Delia, Shayota, Brian J., Oyarzábal, Alfonso, Ghosh, Rajarshi, Sun, Qin, Azamian, Mahshid S., Arjona, Cesar, Brandi, Núria, Palau, Francesc, Lalani, Seema R., Artuch, Rafael, García‐Cazorla, Angeles, Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.12.2019)
Published in American journal of medical genetics. Part A (01.12.2019)
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Journal Article
Mutation of PACS1: the milder end of the spectrum
Martinez-Monseny, Antonio, Bolasell, Mercè, Arjona, Cesar, Martorell, Loreto, Yubero, Delia, Arsmtrong, Judith, Maynou, Joan, Fernandez, Guerau, Del Carmen Salgado, Maria, Palau, Francesc, Serrano, Mercedes
Published in Clinical dysmorphology (01.10.2018)
Published in Clinical dysmorphology (01.10.2018)
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Journal Article
Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain
Ramón y Cajal, Teresa, Polo, Ana, Martínez, Olga, Giménez, Carles, Arjona, César, Llort, Gemma, Bassas, Lluís, Viscasillas, Pere, Calaf, Joaquin
Published in Familial cancer (01.06.2012)
Published in Familial cancer (01.06.2012)
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Journal Article
Review essay senses of sen: Reflections on Amartya Sen's ideas of justice
Cesar Arjona, Arif A Jamal, Carrie MENKEL-MEADOW, Victor V RAMRAJ, Francisco Satiro
Published in International journal of law in context (01.03.2012)
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Published in International journal of law in context (01.03.2012)
Journal Article
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R, Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A, Beltran, Sergi
Published in The Journal of molecular diagnostics : JMD (01.05.2022)
Published in The Journal of molecular diagnostics : JMD (01.05.2022)
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