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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 27-Jan-2015 | Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. | Giancane, Gabriella; Ter Haar, Nienke M.; Wulffraat, Nico; Vastert, Sebastiaan J.; Barron, Karyl; Hentgen, Veronique; Kallinich, Tilmann; Ozdogan, Huri; Antón López, Jordi; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael, 1966-; Koné-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J.; Simon, Anna; Demirkaya, Erkan; Feldman, Brian; Uziel, Yosef; Ozen, Seza |
| 26-Sep-2015 | Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. | Panagiotakaki, Eleni; Grandis, Elisa de; Stagnaro, Michela; Heinzen, Erin L.; Fons, Carmen; Sisodiya, Sanjay; Vries, Boukje de; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid; Lesca, Gaetan; Rabilloud, Muriel; Klich, Amna; Ramírez Camacho, Alia; Ulate-Campos, Adriana; Campistol Plana, Jaume; Giannotta, Melania; Moutard, Marie L.; Doummar, Diane; Hubsch-Bonneaud, Cecile; Jaffer, Fatima; Cross, J. Helen; Gurrieri, Fiorella; Tiziano, Danilo; Nevsimalova, Sona; Nicole, Sophie; Neville, Brian; Maagdenberg, Arn M.J.M. van den; Mikati, Mohamad; Goldstein, David B.; Vavassori, Rosaria; Arzimanoglou, Alexis; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium |
| 9-Dec-2015 | Prevalence of MITF p.E318K in patients with melanoma independent of the presence of CDKN2A causative mutations | Potrony Mateu, Míriam; Puig Butillé, Joan Anton; Aguilera, Paula; Badenas Orquin, Celia; Tell Martí, Gemma; Carrera Álvarez, Cristina; Del Pozo, Luis Javier; Conejo Mir, Julian; Malvehy, J. (Josep); Puig i Sardà, Susana |
| 28-Nov-2014 | The COPD Knowledge Base: enabling data analysis and computational simulation in translational COPD research | Cano Franco, Isaac; Tényi, Ákos; Schueller, Christine; Wolff, Martin; Huertas Migueláñez, M. Mercedes; Gomez Cabrero, David; Antczak, Philipp; Roca Torrent, Josep; Cascante i Serratosa, Marta; Falciani, Francesco; Maier, Dieter |
| 9-Oct-2017 | Maternal and fetal genetic contribution to gestational weight gain | Warrington, Nicole M.; Richmond, Rebecca C.; Fenstra, Bjarke; Myhre, Ronny; Gaillard, Romy; Paternoster, Lavinia; Wang, Carol A.; Beaumont, Robin N.; Das, Shikta; Murcia, Mario; Barton, Sheila J.; Espinosa Cardiel, Ana; Thiering, Elisabeth; Atalay, Mustafa; Pitkanen, Niina; Ntalla, Ioanna; Jonsson, Anna E.; Freathy, Rachel M.; Karhunen, Ville; Tiesler, Carla M. T.; Allard, Catherine; Crawford, Andrew; Ring, Susan M.; Melbye, Mads; Magnus, Per; Rivadeneira, Fernando; Skotte, Line; Hansen, Torben; Marsh, Julie A.; Guxens, Mònica; Holloway, John W.; Grallert, Harald; Jaddoe, Vincent W.; Lowe, William L.; Roumeliotaki, Theano; Hattersley, Andrew T.; Lindi, Virpi; Pahkala, Katja; Panoutsopoulou, Kalliope; Standl, Marie; Flexeder, Claudia; Bouchard, Luigi; Nohr, Ellen Aagard; Marina, Loreto Santa; Kogevinas, Manolis; Niinikoski, Harri; Dedoussis, George; Heinrich, Joachim; Reynolds, Rebecca M.; Lakka, Timo; Zeggini, Eleftheria; Raitakari, Olli T.; Chatzi, Leda; Inskip, Hazel M.; Bustamante Pineda, Mariona; Hivert, Marie-France; Jarvelin, Marjo-Riitta; Sorensen, Thorkild I. A.; Pennell, Craig E.; Felix, Janine F.; Jacobsson, Bo; Geller, Frank; Evans, David M.; Lawlor, Debbie A. |
| 20-Oct-2022 | Application of Next Generation Sequencing to Study the Genetics of Idiopathic Neonatal Arterial Ischemic Stroke | Olival T., Jonathan F. |
| 29-Jun-2021 | Phase Variation in HMW1A Controls a Phenotypic Switch in Haemophilus influenzae Associated with Pathoadaptation during Persistent Infection | Fernández Calvet, Ariadna; Euba, Begoña; Gil Campillo, Celia; Catalan Moreno, Arancha; Moleres, Javier; Martí Martí, Sara; Merlos, Alexandra; Langereis, Jeroen D.; García del Portillo, Francisco; Bakaletz, Lauren O.; Ehrlich, Garth D.; Porsch, Eric A.; Menéndez, Margarita; Mell, Joshua Chang; Toledo Arana, Alejandro; Garmendia, Junkal |
| 24-Jan-2015 | Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb | Castellanos, Elisabeth; Bielsa, Isabel; Carrato, Cristina; Rosas, Inma; Solanes, Ares; Hostalot, Cristina; Amilibia, Emilio; Prades, José; Roca Ribas, Francesc; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Serra Arenas, Eduard; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC |
| 16-Jul-2020 | iPSCs, CRISPR/Cas9 y protocolos de diferenciación basados en factores de transcripción para generar nuevos modelos neuronales y astrocíticos del síndrome de Sanfilippo | Benetó Gandia, Noelia |
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