Browsing by Subject Genètica humana
Showing results 118 to 137 of 146
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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 9-Sep-2010 | Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish population | Fernández-Rozadilla, Ceres; Castro, Luisa de; Clofent, Juan; Brea-Fernández, Alejandro; Bessa i Caserras, Xavier; Abulí, Anna; Andreu, Montserrat; Jover, Rodrigo; Xicola, Rosa; Llor, Xavier; Castells Garangou, Antoni; Castellví Bel, Sergi; Carracedo Álvarez, Ángel; Ruiz-Ponte, Clara; Gastrointestinal Oncology Group of the Spanish Gas |
| 24-Oct-2022 | Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p | Weiner, Daniel J.; Ling, Emi; Erdin, Serkan; Tai, Derek J.C.; Yadav, Rachita; Grove, Jakob; Fu, Jack M.; Nadig, Ajay; Carey, Caitlin E.; Baya, Nikolas; Bybjerg Grauholm, Jonas; iPSYCH Consortium; PGC ASD; PGC ADHD; Berretta, Sabina; Macosko, Evan Z.; Sebat, Jonathan; O'Connor, Luke J.; Hougaard, David M.; Børglum, Anders D.; Talkowski, Michael E.; McCarroll, Steven A.; Robinson, Elise B. |
| 28-Jan-2022 | Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis | Al Khleifat, Ahmad; Iacoangeli, Alfredo; Vugt, Joke J. F. A. van; Bowles, Harry; Moisse, Matthieu; Zwamborn, Ramona A. J.; Spek, Rick A. A. van der; Shatunov, Aleksey; Cooper-Knock, Johnathan; Topp, Simon; Byrne, Ross; Gellera, Cinzia; López, Victoria; Jones, Ashley R.; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; Rheenen, Wouter van; Kenna, Brendan; Eijk, Kristel R. van; Kenna, Kevin; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; Es, Michael A. van; Mclaughlin, Russell L.; Vourc’h, Patrick; Chio, Adriano; Corcia, Philippe; Carvalho, Mamede de; Gotkine, Marc; Panades, Monica P.; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Basak, Nazli; Hardiman, Orla; Robberecht, Wim; Damme, Philip van; Berg, Leonard H. van der; Veldink, Jan H.; Al Chalabi, Ammar |
| 15-Jul-2020 | Study of complex chromosomal rearrangements in cancer. The role of extrachromosomal circular DNA as a genome remodeler in neuroblastoma | Rodriguez Fos, Elias |
| 14-Jul-2020 | Study of the components that determine the applicability of pathogenicity predictors in the clinical setting | Aguirre Gómez, Josu |
| 17-Apr-2013 | Telomere length and genetic anticipation in lynch syndrome | Seguí Gracia, Nuria; Pineda Riu, Marta; Guinó, Elisabet; Borràs Flores, Ester; Navarro, Matilde; Bellido Molías, Fernando; Moreno Aguado, Víctor; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Capellá, G. (Gabriel); Valle Velasco, Laura |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 3-Oct-2012 | The clinical significance of MiR-148a as a predictive biomarker in patients with advanced colorectal cancer | Takahashi, Masanobu; Cuatrecasas Freixas, Miriam; Balaguer Prunés, Francesc; Hur, Keun; Toiyama, Yuji; Castells Garangou, Antoni; Boland, C. Richard; Goel, Ajay |
| 2012 | The complex organization of human cognitive domains and their heritability: a systematic review | Goldberg, Ximena; Lemos Giráldez, Serafín; Fañanás Saura, Lourdes |
| 12-Dec-2022 | The impact of adaptor selection on genotyping in 2b-RAD studies | Galià Camps, Carles; Carreras Huergo, Carlos; Turon, Xavier; Pascual Berniola, Marta |
| 28-Jun-2022 | The impact of rare germline variants on human somatic mutation processes | Vali-Pour, Mischan; Park, Solip; Espinosa-Carrasco, José; Ortiz Martínez, Daniel; Lehner, Ben; Supek, Fran |