المؤلفون: Hernández, Gonzalo, Romero-Cortadellas, Lídia, Ferrer-Cortès, Xènia, Venturi, Veronica, Dessy-Rodriguez, Mercedes, Olivella, Mireia, Husami, Ammar, Pérez De Soto, Concepción, Morales-Camacho, Rosario M., Villegas, Ana, González-Fernández, Fernando-Ataulfo, Morado, Marta, Kalfa, Theodosia A., Quintana-Bustamante, Oscar, Pérez-Montero, Santiago, Tornador, Cristian, Segovia, Jose-Carlos, Sánchez, Mayka

مصطلحات موضوعية: Medicina, Medicine

الوقت: 61

العلاقة: Haematologica; 108;2; Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia [et al.]. Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica, 2023, 108(2), p. 581-587. Disponible en: . Fecha de acceso: 23 ene. 204. DOI:10.3324/haematol.2022.281277; http://hdl.handle.net/20.500.12328/3943Test; https://dx.doi.org/10.3324/haematol.2022.281277Test

الإتاحة: https://doi.org/20.500.12328/3943Test
https://doi.org/10.3324/haematol.2022.281277Test
https://hdl.handle.net/20.500.12328/3943Test

المؤلفون: Mara Musri, Melina, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

مصطلحات موضوعية: Anèmia diseritropoètica congènita, CDA tipus II, SEC23B, Anèmies hereditàries, Eritropoesi ineficaç, Malaltia rara de la sang, Mutacions, Variants, Anemia diseritropoyética congénita, CDA tipo II, Anemias hereditarias, Eritropoyesis ineficaz, Enfermedad sanguínea rara, Mutaciones, Variantes, Congenital dyserythropoietic anemia, CDA type II, Hereditary anemias, Ineffective erythropoiesis, Rare blood disease, Mutations

الوقت: 61

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences; 24;12; Mara Musri, Melina; Venturi, Veronica; Ferrer-Cortès, Xènia [et al.]. New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II. International Journal of Molecular Sciences, 2023, 24(12), 9935. Disponible en: . Fecha de acceso: 21 sep. 2023. DOI:10.3390/ijms24129935; http://hdl.handle.net/20.500.12328/3820Test; https://dx.doi.org/10.3390/ijms24129935Test

الإتاحة: https://doi.org/20.500.12328/3820Test
https://doi.org/10.3390/ijms24129935Test
https://hdl.handle.net/20.500.12328/3820Test

المؤلفون: Bouthelier, Antonio, Fernández-Arroyo, Lucía, Mesa-Ciller, Claudia, Cibrian, Danay, Martín-Cófreces, Noa Beatriz, Castillo-González, Raquel, Calero, Macarena, Herráez Aguilar, Diego, Guajardo-Grence, Andrea, Pacheco, Ana María, Marcos-Jiménez, Ana, Quiroga, Borja, Morado, Marta, Monroy, Francisco, Muñoz-Calleja, Cecilia, Sánchez-Madrid, Francisco, Urrutia, Andrés A., Aragonés, Julián

العلاقة: https://www.sciencedirect.com/science/article/pii/S2589004222020120#:~:text=Together%20the%20data%20presented%20here,CD71%20expression%20and%20mitochondrial%20activityTest.; https://hdl.handle.net/10641/3832Test

الإتاحة: https://doi.org/10.1016/j.isci.2022.105739Test
https://hdl.handle.net/10641/3832Test

المؤلفون: Al-Samkari, Hanny, Grace, Rachael F., Glenthøj, Andreas, Barcellini, Wilma, Verhovsek, Madeleine, Rothman, Jennifer A., Morado, Marta, Layton, Mark, Andres, Oliver, Galactéros, Frédéric, Onodera, Koichi, Chonat, Satheesh, Xu, Rengyi, Mcgee, Bryan, Dibacco, Melissa, Morales, Jaime, van Beers, Eduard

المصدر: HemaSphere ; volume 7, issue S3, page e918756f ; ISSN 2572-9241

الإتاحة: https://doi.org/10.1097/01.hs9.0000972776.91875.6fTest

المؤلفون: Morado, Marta, Villarrubia, Jesus, Vitoria, Isidro, Calderón, Enrique J., Cabeza, Miguel Angel Torralba

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 2, page 107966 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107966Test
https://api.elsevier.com/content/article/PII:S1096719223005966?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719223005966?httpAccept=text/plainTest

المؤلفون: Meijon-Ortigueira, Maria del Mar, Solares, Isabel, Muñoz-Delgado, Cecilia, Stanescu, Sinziana, Morado, Marta, Pascual-Izquierdo, Cristina, Villalon Blanco, Lucía, Belanger Quintana, Amaya, Menéndez-Conde, Covadonga Pérez, Morales-Conejo, Montserrat, Villarrubia-Espinosa, Jesús

المصدر: Biomedicines; Mar2024, Vol. 12 Issue 3, p579, 10p

مصطلحات موضوعية: GAUCHER'S disease, KIDNEY tumors, ENZYME deficiency, GENETIC counseling, GENETIC disorders

المؤلفون: Villarrubia, Jesús, Calderón, Enrique, Torralba, Miguel Angel, Vitoria, Isidro, Morado, Marta, Quintero, Víctor, Morales, Montserrat, Carrillo-Linares, Juan Luis, Muñoz, Gema

وصف الملف: application/pdf

العلاقة: http://zaguan.unizar.es/record/101569Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.12.269Test
http://zaguan.unizar.es/record/101569Test

المؤلفون: Argüello-Marina, María, López-Rubio, Montserrat, Morado, Marta

المصدر: Medicina Clínica ; volume 157, issue 7, page 345-346 ; ISSN 0025-7753

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/j.medcli.2021.03.033Test
https://api.elsevier.com/content/article/PII:S0025775321002517?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0025775321002517?httpAccept=text/plainTest

المؤلفون: Argüello-Marina, María, López-Rubio, Montserrat, Morado, Marta

المصدر: Medicina Clínica (English Edition) ; volume 157, issue 7, page 345-346 ; ISSN 2387-0206

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/j.medcle.2021.03.012Test
https://api.elsevier.com/content/article/PII:S2387020621004824?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2387020621004824?httpAccept=text/plainTest

المؤلفون: del Castillo, Francisco J., Hammoud, Miloud, Assiri, Imane, Domínguez-Ruiz, María, Morado, Marta, Espinosa, Jesus Villarrubia, FDIL, Naima

المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107073 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2022.107073Test
https://api.elsevier.com/content/article/PII:S1096719222005510?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222005510?httpAccept=text/plainTest