Browsing by Subject Genètica humana
Showing results 107 to 126 of 146
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| Issue Date | Title | Author(s) |
|---|---|---|
| 16-Mar-2017 | New genes and pathways implicated in Rett syndrome: considerations and future applications | Lucariello, Mario |
| 22-Dec-2016 | Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing | Castro Miró, Marta de; Tonda, Raul; Escudero Ferruz, Paula; Andrés, Rosa; Mayor Lorenzo, Andres; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez Ezcurra, Juan José; Farrando, Jorge; Pérez Santonja, Juan J.; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 10-May-2017 | Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants | Serra Juhe, Clara; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc; Flores, Raquel; González, Juan Ramón; Rodríguez Santiago, Benjamín; Argente, Jesús; Pérez Jurado, Luis |
| 1996 | A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. | Barrientos Rubio, Antoni; Volpini Bertrán, Víctor; Casademont i Pou, Jordi; Genís, David; Manzanares, Josep-Maria; Ferrer, Isidro (Ferrer Abizanda); Corral, Jordi; Cardellach, Francesc; Urbano Márquez, A. (Álvaro); Estivill, Xavier, 1955-; Nunes Martínez, Virginia |
| 23-May-2022 | P53 wild-type colorectal cancer cells that express a fetal gene signature are associated with metastasis and poor prognosis | Solé, Laura; Lobo Jarne, Teresa; Álvarez Villanueva, Daniel; Alonso Marañón, Josune; Guillén, Yolanda; Guix, Marta; Sangrador Escrig, Irene; Rozalén, Catalina; Vert, Anna; Barbachano, Antonio; Lop, Joan; Salido, Marta; Bellosillo, Beatriz; García Romero, Raquel; Garrido, Marta; González, Jessica; Martínez Iniesta, María; López Arribillaga, Erika; Salazar, Ramón; Montagut, Clara; Torres, Ferrán; Iglesias, Mar; Celià Terrassa, Toni; Muñoz, Alberto; Villanueva, Alberto; Bigas, Anna; Espinosa, Lluís |
| 2-Nov-2012 | Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants. | Vidal, Francesc; López Dupla, Miguel; Laguno Centeno, Montserrat; Veloso, Sergi; Mallolas Masferrer, Josep; Murillas Angoiti, Javier; Cifuentes, Carmen; Gallart, Lluis; Auguet, Teresa; Sampériz, Gloria; Payeras, Antoni; Hernandez, Pilar; Arnedo, Mireia; Gatell, José M.; Richart, Cristóbal |
| 16-Dec-2016 | Placental and cord blood methylation of genes involved in energy homeostasis: association with fetal growth and neonatal body composition. | Díaz, Marta; García, Cristina; Sebastiani, Giorgia; Zegher, Francis de; López Bermejo, Abel; Ibáñez Toda, Lourdes |
| 18-Feb-2014 | Polygenic determinants of white matter volume derived from GWAS lack reproducibility in a replicate sample | Papiol, S.; Mitjans Niubó, Marina; Assogna, F.; Piras, F.; Hammer, C.; Caltagirone, Carlo; Arias Sampériz, Bárbara; Ehrenreich, H.; Spalleta, G. |
| 29-Jun-2016 | Predicting Response Trajectories during Cognitive-Behavioural Therapy for Panic Disorder: No Association with the BDNF Gene or Childhood Maltreatment. | Santacana, Marti; Arias Sampériz, Bárbara; Mitjans Niubó, Marina; Bonillo, Albert; Montoro, Maria; Rosado, Silvia; Guillamat, Roser; Vallès, Vicenç; Pérez, Víctor; Forero, Carlos G.; Fullana, Miquel A. |
| 21-Sep-2017 | Prevalent sequences in the Human Genome Can Form Mini i-Motif Structures at Physiological pH | Mir Morro, Bartomeu; Serrano, Israel; Buitrago Ospina, Diana Camila; Orozco López, Modesto; Escaja Sánchez, Nuria; González, Carlos |
| 16-Feb-2012 | Qui controla el comportament sexual? | Bueno i Torrens, David, 1965- |
| 22-Jan-2018 | Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes | Bonàs Guarch, Sílvia; Guindo Martínez, Marta; Miguel-Escalada, Irene; Grarup, Niels; Sebastián Muñoz, David; Rodriguez-Fos, Elias; Sánchez, Friman; Planas-Fèlix, Mercè; Cortes-Sánchez, Paula; González, Santi; Timshel, Pascal; Pers, Tune H.; Morgan, Claire C.; Moran, Ignasi; Atla, Goutham; González, Juan Ramón; Puiggròs, Montserrat; Martí, Jonathan; Andersson, Ehm A.; Díaz, Carlos; Badia, Rosa M.; Udler, Miriam; Leong, Aaron; Kaur, Varindepal; Flannick, Jason; Jørgensen, Torben; Linneberg, Allan; Jørgensen, Marit E.; Witte, Daniel R.; Christensen, Cramer; Brandslund, Ivan; Appel, Emil V.; Scott, Robert A.; Luan, Jian'an; Langenberg, Claudia; Wareham, Nicholas J.; Pedersen, Oluf; Zorzano Olarte, Antonio; Florez, Jose C.; Hansen, Torben |
| 2013 | Recensión al libro ANDORNO, Roberto, Bioética y dignidad humana, Tecnos, Madrid, 2012, 177 pp. | Pérez-Madrid, Francisca |
| 15-Dec-2023 | Relevant deubiquitinating enzymes in cilium formation and function in the retina: USP48 | Sánchez Bellver, Laura |
| 25-Nov-2021 | RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant | Rofes, Paula; Pineda, Marta; Feliubadaló, Lídia; Menéndez, Mireia; Cid, Rafael de; Gómez, Carolina; Montes, Eva; Capellá, G. (Gabriel); Brunet, Joan; Valle, Jesús del; Lázaro, Conxi |
| Nov-2013 | Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies | Carreño, Oriel; Corominas Castiñeira, Roser; Serra, Selma Angèlica; Sintas Vives, Cèlia; Fernàndez Castillo, Noèlia; Vila Pueyo, Marta; Toma, Claudio; González Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg Vaisman, Daniel Raúl; Valverde, Miguel Ángel; Fernández-Fernández, José Manuel; Macaya Ruiz, Alfons; Cormand Rifà, Bru |
| 24-Nov-2006 | Selecció d'embrions | Bueno i Torrens, David, 1965- |
| 9-Nov-2015 | Sequence information gain based motif analysis | Maynou, J.; Pairó, E.; Marco Colás, Santiago; Perera Lluna, Alexandre |
| Feb-2019 | Serum magnesium and calcium levels in relation to ischemic stroke Mendelian randomization study | Larsson, Susanna C.; Traylor, Matthew; Burgess, Stephen; Boncoraglio, Giorgio B.; Jern, Christina; Michaëlsson, Karl; Markus, Hugh Stephen; MEGASTROKE project of the International Stroke Genetics Consortium; Rabionet Janssen, Raquel |
| 12-Apr-2023 | Sibling Differences in Genetic Propensity for Education: How Do Parents React? | Sanz-de-Galdeano, Anna; Terskaya, Anastasia |