| 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 |  | 18-sep-2019 | Biomarkers in Vestibular Schwannoma–Associated Hearing Loss | Lassaletta, Luis CSIC; Calvino, Miryam; Morales-Puebla, Jose Manuel; Lapunzina, Pablo; Rodriguez-de la Rosa, Lourdes CSIC ORCID; Varela-Nieto, Isabel CSIC ORCID ; Martinez-Glez, Víctor | artículo |
| closedAccess |  | 2018 | CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype | Rodriguez-Laguna, Lara; Ibáñez, Kristina; Gordo, Gema; García-Miñaur, Sixto; Santos-Simarro, Fernando; Agra, Noelia CSIC; Vallespin, Elena; Fernández-Montaño, Victoria E.; Martín-Arenas, Rubén; Pozo, Angela del; González-Pecellín, Héctor; Mena, Rocío; Rueda-Arenas, Inmaculada; Gomez, María V.; Villaverde, Cristina; Bustamante, Ana; Ayuso, Carmen; Ruiz-Pérez, Victor L. CSIC ORCID; Nevado, Julian; Lapunzina, Pablo; Lopez-Gutierrez, Juan C.; Martinez-Glez, Víctor | artículo |
| openAccess |  | 2017 | Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta | Caparrós-Martín, José A. CSIC; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Valencia, María CSIC; Nevado, Julian; Vallespin, Elena; Pozo, Angela del; Prior de Castro, Carmen; Calatrava-Ferreras, Lucia; Gutiérrez, Pilar; Bueno, Ana M.; Sagastizabal, Belen; Guillén-Navarro, Encarna; Ballesta-Martinez, Maria; Gonzalez, Vanesa; Basaran, Sarenur Y.; Buyukoglan, Ruksan; Sarikepe, Bilge; Espinoza-Valdez, Cecilia; Cammarata-Scalisi, Francisco; Martinez-Glez, Víctor; Heath, Karen E.; Lapunzina, Pablo; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| openAccess |  | 2017 | Phenotypic variation in patients with homozygous c.1678G>T mutation in EVC gene: Report of two mexican families with Ellis-van Creveld syndrome | Ibarra-Ramirez, Marisol; Campos-Acevedo, Luis Daniel; Lugo-Trampe, Jose; Martínez-Garza, Laura E.; Martinez-Glez, Víctor; Valencia, María CSIC; Lapunzina, Pablo; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
| closedAccess |  | 15-jun-2019 | Recessive mutations in muscle-specific isoforms of Fxr1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| openAccess |  | 2019 | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
