Mostrando resultados 57 a 67 de 67
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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 6-abr-2018 | Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Calderón, Ana María; Moreno de las Heras, María; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 6-sep-2018 | Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing | González del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Chimenea, Ángel CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
closedAccess | | 2011 | Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male | Pieras, Juan Ignacio; Muñoz-Cabello, Beatriz; Borrego, Salud CSIC ORCID; Marcos Luque, Irene CSIC; Perona, Javier S. CSIC ORCID ; Madruga, Marcos CSIC; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 21-jul-2023 | Table1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.XLSX | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | 21-jul-2023 | Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | 21-jul-2023 | Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
openAccess | | jul-2023 | Two Year Neurodevelopmental Outcome after Fetoscopic Laser Therapy for Twin–Twin Transfusion Syndrome: Comparison with Uncomplicated Monochorionic Diamniotic Twins | Chimenea, Ángel CSIC ORCID; García-Díaz, Lutgardo CSIC ORCID CVN; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 12-feb-2020 | Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants | González del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 3-feb-2017 | Unravelling the genetic basis of simplex Retinitis Pigmentosa cases | Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
openAccess | | 23-jul-2021 | Unusual clinical phenotype of Stargardt disease | Molina-Solana, Pedro; Morillo-Sánchez, María José; Méndez-Vidal, Cristina CSIC ORCID; Ramos-Jiménez, Manuel; Domínguez-Serrano, Francisco de Borja; Antiñolo, Guillermo CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique | artículo |
closedAccess | | ene-2020 | What is new about the genetic background of Hirschsprung disease? | Luzón-Toro, Berta CSIC; Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo de revisión |