Browsing by Subject Genètica humana
Showing results 71 to 90 of 146
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| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Dec-2022 | Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Hendricks, Linda A.J.; Hoogerbrugge, Nicoline; Venselaar, Hanka; Aretz, Stefan; Spier, Isabel; Legius, Eric; Brems, Hilde; De Putter, Robin; Claes, Kathleen B.M.; Evans, D. Gareth; Woodward, Emma R.; Genuardi, Maurizio; Brugnoletti, Fulvia; Van Ierland, Yvette; Dijke, Kim; Tham, Emma; Tesi, Bianca; Schuurs Hoeijmakers, Janneke H.M.; Branchaud, Maud; Salvador, Hector; Jahn, Arne; Schnaiter, Simon; Anastasiadou, Violetta Christophidou; Brunet, Joan; Oliveira, Carla; Roht, Laura; Blatnik, Ana; Irmejs, Arvids; Mensenkamp, Arjen R.; Vos, Janet R.; Duijkers, Floor; Giltay, Jacques C.; Van Hest, Liselotte P.; Kleefstra, Tjitske; Leter, Edward M.; Nielsen, Maartje; Nijmeijer, Sebastiaan W.R.; Olderode-berends, Maran J.W. |
| 21-Feb-2013 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype | López de Heredia, Miguel; Clèries Soler, Ramon; Nunes Martínez, Virginia |
| 22-May-2004 | Gens, paraules i l'origen dels europeus | Bueno i Torrens, David, 1965- |
| 7-Jan-2008 | Gens,humans i rock | Bueno i Torrens, David, 1965- |
| 15-Mar-2008 | Herència feliç | Bueno i Torrens, David, 1965- |
| Jul-2016 | Human norovirus hyper-mutation revealed by ultra-deep sequencing | Cuevas, José M.; Combe, Marine; Torres-Puente, Manoli; Garijo, Raquel; Guix Arnau, Susana; Buesa Gómez, Javier; Rodríguez-Díaz, Jesús; Sanjuán, Rafael |
| 1-May-2022 | Human papillomavirus seroprevalence and seroconversion following baseline detection of nine human papillomavirus types in young women | Brown, Darron R.; Castellsagué, Xavier; Ferris, Daron; Garland, Suzanne M.; Huh, Warner; Steben, Marc; Wheeler, Cosette M.; Saah, Alfred; Luxembourg, Alain; Li, Se; Velicer, Christine |
| 15-Sep-2015 | Hypoxia drives breast malignancy through a TET -TNFα-p38-MAPK signaling axis. | Wu, Min-Zu; Chen, Su-Feng; Nieh, Shin; Benner, Christopher; Ger, Luo-Ping; Jan, Chia-Ing; Ma, Li; Chen, Chien-Hung; Hishida, Tomoaki; Chang, Hong-Tai; Lin, Yaoh-Shiang; Montserrat Pulido, Núria; Gascón, Pere; Sancho-Martinez, Ignacio; Izpisúa Belmonte, Juan Carlos |
| 16-Apr-2013 | Identification of genetic susceptibility factors for fibromyalgia | Docampo Martínez, Elisa |
| 26-Sep-2022 | Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups | Mattheisen, Manuel; Grove, Jakob; Als, Thomas D.; Martin, Joanna; Voloudakis, Georgios; Meier, Sandra; Demontis, Ditte; Bendl, Jaroslav; Walters, Raymond; Carrey, Caitlin E.; Rosengren, Anders; Strom, Nora I.; Hauberg, Mads Engel; Zeng, Biao; Hoffman, Gabriel; Bybjerg-Grauholm, J.; Bækvad-Hansen, M.; Agerbo, Esben; Cormand Rifà, Bru; Nordentoft, Merete; Werge, Thomas; Mors, Ole; Hougaard, David M.; Buxbaum, Joseph D.; Faraone, Stephen V.; Franke, Barbara; Dalsgaard, Søren; Mortensen, Preben B.; Robinson, Elise B.; Roussos, Panos; Neale, Benjamin M.; Daly, Mark J.; Børglum, Anders D. |
| 17-Feb-2011 | Impulsivitat i llàgrimes | Bueno i Torrens, David, 1965- |
| 2-Sep-2015 | Influence of TYK2 in systemic sclerosis susceptibility: a new locus in the IL-12 pathway | López Isac, Elena; Campillo Davo, Diana; Bossini Castillo, Lara; Guerra, Sandra G.; Assassi, Shervin; Simeón Aznar, Carmen Pilar; Carreira, Patricia; Ortego Centeno, Norberto; García de la Peña, Paloma; Beretta, Lorenzo; Santaniello, Alessandro; Bellocchi, Chiara; Lunardi, Claudio; Moroncini, Gianluca; Gabrielli, Armando; Riemestaken, Gabriela; Witte, Torsten; Hunzelmann, Nicolas; Kreuter, Alexander; Distler, Jörg H.V.; Voskuyl, Alexandre E.; Vries-Bouwstra, Jeska de; Herrick, Ariane L.; Worthington, Jane; Denton, Christopher P.; Fonseca, Carmen; Radstake, Timothy R.D.J.; Mayes, Maureen D.; Martín, Javier; Spanish Scleroderma Study Group (SSSG); Espinosa Garriga, Gerard |
| 29-Jan-2016 | Influència de la resposta immunitària innata en la malaltia pneumocòccica invasiva greu: polimorfismes genètics en la via de senyalització Toll-IL1R i expressió de la L-selectina en leucòcits | Carrasco Colom, Jaume |
| 12-Apr-2016 | Integrating genetic, neuropsychological and neuroimaging data to model early-onset obsessive compulsive disorder severity | Mas Herrero, Sergi; Gassó Astorga, Patricia; Morer Liñán, Astrid; Calvo, Anna; Bargalló Alabart, Núria; Lafuente, Amàlia, 1952-2022; Lázaro García, Luisa |
| 30-Jan-2018 | Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder | Pagerols Teixidó, Mireia; Richarte, Vanesa; Sánchez Mora, Cristina; Rovira, Paula; Soler Artigas, María; Garcia-Martínez, Iris; Calvo-Sánchez, Eva; Corrales, Montserrat; Santos da Silva, Bruna; Roth-Mota, Nina; Victor, Marcelo Moraes; Rohde, Luis Augusto; Grevet, Eugenio Horacio; Bau, Claiton Henrique Dotto; Cormand Rifà, Bru; Casas, Miquel; Ramos Quiroga, Josep Antoni; Ribasés Haro, Marta |
| 31-May-2003 | Interferència mediada per RNA, una nova revolució genètica | Bueno i Torrens, David, 1965- |
| 18-Jan-2000 | Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer | Palicio, M.; Blanco Guillermo, Ignacio; Tórtola, S.; González, I.; Marcuello, Eugenio; Brunet, Joan; Gonzalez Aguilera, Juan Jose; Peinado Morales, Miguel Á. (Miguel Ángel); Capellá, G. (Gabriel); Lluis, Fèlix |
| 26-Mar-2004 | Investigación y desarrollo de abaperidona, nuevo antipsicótico 5HT2A/D2 y alfa1-adrenérgico. Modelos "in vitro" e "in vivo" predictivos de eficacia y efectos adversos | Príncep i Mota, Marta |
| 13-Jun-2020 | Involvement of the 14-3-3 gene family in autism spectrum disorder and schizophrenia: Genetics, transcriptomics and functional analyses | Torrico Avilés, Bàrbara; Antón Galindo, Ester; Fernàndez Castillo, Noèlia; Rojo Francàs, Eva; Ghorbani, Sadaf; Pineda Cirera, Laura; Hervás, Amaia; Rueda, Isabel; Moreno Guillén, Estefanía; Fullerton, Janice M.; Casadó, Vicent; Buitelaar, Jan K.; Rommelse, Nanda; Franke, Barbara; Reif, Andreas; Chiocchetti, Andreas G.; Freitag, Christine; Kleppe, Rune; Haavik, Jan; Toma, Claudio; Cormand Rifà, Bru |
| 25-Jul-2013 | Involvement of the clock gene Rev-erb alpha in the regulation of glucagon secretion in pancreatic alpha-cells | Vieira, Elaine; Marroquí, Laura; Figueroa, Ana Lucia; Merino, Beatriz; Fernandez-Ruiz, Rebeca; Nadal, Angel; Burris, Thomas P.; Gomis, Ramon, 1946-; Quesada, Ivan |