| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | ene-2023 | A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies | González Álvarez, Luis Francisco; Tenorio, Jair; Poletta, Fernando A.; Santos-Simarro, Fernando; Arias, Pedro; Gallego, Natalia; Orioli, Iêda Maria; Mundlos, Stefan; Castilla, Eduardo E.; Martinez-Glez, Víctor; Martínez-Frías, María Luisa; Ruiz-Pérez, Victor L. CSIC ORCID; Nevado, Julian; Lapunzina, Pablo | artículo |
| closedAccess |  | 2020 | A six-attribute classification of genetic mosaicism | Martinez-Glez, Víctor; Tenorio, Jair; Nevado, Julian; Gordo, Gema; Rodriguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez-Jurado, Luis Alberto; Ruiz-Pérez, Victor L. CSIC ORCID; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo | artículo |
| openAccess |  | 17-abr-2021 | Epigenome-wide association study of COVID-19 severity with respiratory failure | Castro de Moura, Manuel; Davalos, Veronica; Planas-Serra, Laura; Álvarez-Errico, Damiana; Arribas, Carles; Ruiz, Montserrat; Aguilera-Albesa, Sergio; Troya, Jesús; Valencia-Ramos, Juan; Vélez-Santamaría, Valentina; Rodríguez-Palmero, Agustí; Villar-García, Judit; Horcajada, Juan Pablo; Albu, Sergiu; Casasnovas, Carlos; Rull, Anna; Reverté, Laia; Dietl, Beatriz; Dalmau, David CSIC ORCID; Arranz, Maria J.; Llucià-Carol, Laia CSIC ORCID; Planas, Anna M. CSIC ORCID; Pérez-Tur, Jordi CSIC ORCID ; Fernández-Cadenas, Israel; Villares, Paula; Tenorio, Jair; Colobran, Roger; Martin-Nalda, Andrea; Soler-Palacín, Pere; Vidal, Francesc; Pujol, Aurora; Esteller, Manel | artículo |
| closedAccess |  | 2019 | Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients | Tenorio, Jair; Alarcón, Pablo; Arias, Pedro; Dapía, Irene; García-Miñaur, Sixto; Palomares, María; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio CSIC; Martínez Monseny, Antonio; López Grondona, Fermina; Botet, Javier CSIC; Serrano, Mercedes; Solís, Mario; Santos-Simarro, Fernando; Álvarez, Sara; Teixidó-Tura, Gisela; Fernández Jaén, Alberto; Gordo, Gema; Bardón Rivera, María Belén; Nevado, Julian; Hernández, Alicia; Cigudosa, Juan C.; Ruiz-Pérez, Victor L. CSIC ORCID; Tizzano, Eduardo F.; Lapunzina, Pablo | artículo |
| closedAccess |  | 5-nov-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome | Palencia-Campos, Adrián CSIC; Aoto, Phillip C.; Machal, Erik M.F.; Rivera-Barahona, Ana CSIC; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Hul, Wim Van; Huber, Céline; Bonneau, Dominique; Hildebrand, Michael S.; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F.; Schneider, Amy L.; Scheffer, Ingrid E.; Kibæk, Maria; Kristiansen, Britta S.; Issa, Mahmoud; Mehrez, Mennat I.; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Steen Skålhegg, Bjørn; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Jønch, Aia E.; Luca, Alessandro De; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, A.; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W.; Taylor, Susan S. T.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 2019 | MRX93 syndrome (BRWD3 gene): five new patients with novel mutations | Tenorio, Jair; Alarcón, Pedro; Arias, Pedro; Ramos, Feliciano J.; Campistol, Jaume; Climent, Salvador; García-Miñaur, Sixto; Dapía, Irene; Hernández, Alicia; Nevado, Julian; Solís, Mario; Ruiz-Pérez, Victor L. CSIC ORCID; Sogri Consortium; Lapunzina, Pablo | artículo |
| closedAccess |  | 6-oct-2022 | Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia | Iturrate, Asier; Rivera-Barahona, Ana CSIC; Flores, Carmen-Lisset CSIC ORCID; Otaify, Ghada A.; Elhossini, Rasha; Perez-Sanz, Marina L.; Nevado, Julian; Tenorio, Jair; Triviño, Juan Carlos; Garcia-Gonzalo, Francesc R. CSIC ORCID; Piceci-Sparascio, Francesca; Luca, Alessandro De; Martínez, Leopoldo; Kalaycı, Tugba; Lapunzina, Pablo; Altunoglu, Umut; Aglan, Mona; Abdalla, Ebtesam; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | jun-2021 | The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders | Lapunzina, Pablo; Tenorio, Jair; Nevado, Julian; Campos Barros, Ángel; Pachajoa, Harry; Ruiz-Pérez, Victor L. CSIC ORCID; Castilla, Eduardo E. | artículo |
