Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Rogelio Simón"'
Autor:
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without ne
Externí odkaz:
https://doaj.org/article/9472500101a14f7eb251f61423ea1fb9
Autor:
María Soriano-Ramos, Noemí Núñez Enamorado, Virginia Navarro-Abia, Rogelio Simón de las Heras
Publikováno v:
Anales de Pediatría, Vol 88, Iss 3, Pp 174-175 (2018)
Externí odkaz:
https://doaj.org/article/78285a28270d4d0694b25a188428e116
Autor:
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N. Olson, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D. Dinman, Bert B. A. de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorín
Publikováno v:
Journal of Human Genetics.
Akademický článek
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Autor:
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N. Olson, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D. Dinman, Bert B. A. de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorín
Publikováno v:
Journal of Human Genetics.
Autor:
Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N., Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D., de Vries, Bert B. A., Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco
Publikováno v:
Journal of Human Genetics; August 2023, Vol. 68 Issue: 8 p543-550, 8p
Autor:
Pablo Rogelio Simón-Salvador, Hermes Santiago-Dionicio, Carlos A. Flores, Edna González-Bernal, Medardo Arreortúa
Publikováno v:
ZooKeys
ZooKeys, Vol 1029, Iss, Pp 185-208 (2021)
ZooKeys, Vol 1029, Iss, Pp 185-208 (2021)
The montane cloud forests of the Sierra Madre de Oaxaca (SMO) host a remarkable herpetofauna diversity and represent one of the most important areas of endemism for Mexico and Mesoamerica. Although the area has been previously studied, most of the ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434f68f7acfb0558f880025345502e54
https://zenodo.org/record/4695557
https://zenodo.org/record/4695557
Autor:
Jaime Cruz-Rojo, Ollalla Sierra-Tomillo, Marta Moreno-García, Rubén Pérez de la Fuente, Laura Rausell-Sánchez, Jesus Gallego-Merlo, Alexandra Juárez-Rufián, José Miguel Lezana-Rosales, Irene Gómez-Manjón, Ana Bustamante-Aragones, María Teresa Sánchez-Calvín, Patricia Ramos-Gómez, A. Camacho-Salas, J. Pozo, Montserrat Morales-Conejo, Lucía Garzón-Lorenzo, Rogelio Simón de las Heras, Maria Isabel Alvarez-Mora, Irene Lázaro-Rodríguez, Juan Francisco Quesada-Espinosa, Irene Hidalgo-Mayoral, María A. Gomez-Cano, Ana Arteche-López, Carmen Palma-Milla, N. Núñez-Enamorado, Maria José Gómez-Rodríguez
Publikováno v:
Neurogenetics. 22(4)
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier female
Autor:
Ana María Camacho, Olalla Sierra Tomillo, Belén Gil-Fournier, Rogelio Simón, Alejandro Segura-Tudela, Juan Francisco Quesada-Espinosa, Maria Isabel Arranz Cano, Arancha Díaz de Bustamante, José Miguel Lezana Rosales, Pablo Morales-Pérez, Noemí Núñez, Rubén Pérez de la Fuente, Soraya Ramiro León, María Teresa Darnaude, Maria Isabel Alvarez-Mora, María José Gómez Rodríguez, Rebeca Villares Alonso, Carmen Palma Milla, Patricia Ramos Gómez, M. Moreno-García, Alexandra Juárez Rufián, Ana Arteche-López, Irene Hidalgo Mayoral, Irene Gómez-Manjón, María Teresa Sánchez Calvín
Publikováno v:
Genes, Vol 12, Iss 560, p 560 (2021)
Genes
Volume 12
Issue 4
Genes
Volume 12
Issue 4
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. C
Autor:
Soraya Ramiro, Beatriz Martinez, Aurelio Hernández-Laín, Sara Alvarez, Ana María Camacho, Noemí Núñez, Belén Gil-Fournier, Rogelio Simón
Publikováno v:
Journal of neuromuscular diseases. 7(3)
Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was considered a bra