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| Issue Date | Title | Author(s) |
|---|---|---|
| 10-May-2021 | Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy | Matioli da Palma, Mariana; Motta, Fabiana Bouise; Salles, Mariana Vallim; Texeira, Caio Henrique Marques; Gomes, André V.; Casaroli Marano, Ricardo Pedro; Sallum, Juliana Maria Ferraz |
| 31-May-2016 | Targeted next generation sequencing in patients with inborn errors of metabolism | Yubero Siles, Dèlia; Brandi, Nuria; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Pérez Dueñas, Belén; Campistol Plana, Jaume; Ribes Rubió, Maria Antònia; Palau Martínez, Francesc; Artuch Iriberri, Rafael; Armstrong i Morón, Judith |
| 21-Aug-2013 | The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry | Lachmann, Helen J.; Papa, R.; Gerhold, K.; Obici, Laura; Touitou, I.; Cantarini, Luca; Frenkel, Joost; Antón López, Jordi; Koné-Paut, Isabelle; Cattalini, Marco; Bader-Meunier, B.; Insalaco, Antonella; Hentgen, Veronique; Merino, R.; Modesto, Consuelo; Toplak, N.; Berendes, R.; Ozen, Seza; Cimaz, Rolando; Jansson, Annette F.; Brogan, Paul; Hawkins, Philip N.; Ruperto, N.; Martini, Alberto; Woo, Patricia; Gattorno, Marco |
| 23-Feb-2022 | Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association | Camacho, Marta; Castelo-Branco Flores, Camil |
| 15-Oct-2022 | Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency. | Muñoz-Pujol, Gerard; Alforja, Socorro; Casaroli Marano, Ricardo Pedro; Morales Romero, Blai; García Villoria, Judit; Yépez, Vicente A; Gagneur, Julien; Gusic, Mirjana; Prokisch, Holger; Tort, Frederic; Ribes Rubió, Maria Antònia |
| 1-Sep-2023 | Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non-placental origin | Paz y Miño, Fernanda; Pauta, Montse; Meler Barrabés, Eva; Matas, Isabel; Mazarico Gallego, Edurne; Camacho, Araceli; Segura, Maria; Figueras, Francesc; Borrell, Antoni |
| Mar-2015 | Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes | Nakagawa, Kenji; Gonzalez Roca, Eva; Souto, Alejandro; Kawai, Toshinao; Umebayashi, Hiroaki; Campistol Plana, Jaume; Cañellas, Jeronima; Takei, Syuji; Kobayashi, Norimoto; Callejas Rubio, José Luis; Ortego Centeno, Norberto; Ruiz Ortiz, Estíbaliz; Rius, Fina; Antón López, Jordi; Iglesias Jiménez, Estíbaliz; Jiménez Treviño, Santiago; Vargas, Carmen; Fernandez Martin, Julian; Calvo, Inmaculada; Hernández Rodríguez, José; Méndez, María; Dordal, María Teresa; Basagaña, Maria; Buján Rivas, Segundo; Yashiro, Masato; Kubota, Tetsuo; Koike, Ryuji; Akuta, Naoko; Shimoyama, Kumiko; Iwata, Naomi; Saito, Megumu K.; Ohara, Osamu; Kambe, Naotomo; Yasumi, Takahiro; Izawa, Kazushi; Kawai, Tomoki; Heike, Toshio; Yagüe, Jordi; Nishikomori, Ryuta; Aróstegui Gorospe, Juan Ignacio |
| 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 |
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