Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia
Rodríguez‐Jiménez, Carmen, Pernía, Olga, Mostaza, Jose, Rodríguez‐Antolín, Carlos, Dios García‐Díaz, Juan, Alonso‐Cerezo, Concepción, García‐Polo, Iluminada, Blanco, Agustín, Lahoz, Carlos, Arrieta, Francisco, Beltrán, Luis, Díaz de Bustamante, Aránzazu, Garzón‐Lorenzo, Lucía, Álvarez‐Sala, Luis Antonio, Asenjo, Ángel, Ibáñez de Cáceres, Inmaculada, Rodríguez‐Nóvoa, Sonia
Published in Human mutation (01.08.2019)
Published in Human mutation (01.08.2019)
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Journal Article
Effectiveness, safety and costs of the FreeStyle Libre glucose monitoring system for children and adolescents with type 1 diabetes in Spain: a prospective, uncontrolled, pre-post study
González-Pacheco, Himar, Rivero-Santana, Amado, Ramallo-Fariña, Yolanda, Valcárcel-Nazco, Cristina, Álvarez-Pérez, Yolanda, García-Pérez, Lidia, García-Bello, Miguel Angel, Perestelo-Pérez, Lilisbeth, Serrano-Aguilar, Pedro, Vergaz, Amparo González, Prado Carro, Ana María, Ortego, Anunciación Beisti, Martorell, Ariadna Campos, Carcavilla Urqui, Atilano José, Del Castillo Villaescusa, Cristina Amparo, Poch, Estela Gil, Arroyo Diez, Francisco Javier, Gómez, Gemma Novoa, Casado, Isabel González, Ibáñez, Juncal Martínez, Piqueras, Laura Cuadrado, Iglesias, Leticia Reis, Lorenzo, Lucia Garzón, Fresno, Luis Salamanca, Martínez Brocca, María Asunción, Rodríguez Blanco, María Aurea, Mar Martínez López, María Del, Ferreiro Rodríguez, María Jesús, del Campo, María Ruiz, Martín, Nerea Itza, Navas, Patricia García, García, Rebeca García
Published in BMJ open (13.12.2023)
Published in BMJ open (13.12.2023)
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Journal Article
Tumor‐induced osteomalacia in an adolescent with an undifferentiated embryonal sarcoma of the liver
Olivas‐Mazón, Raquel, Martín‐Cazaña, María, Pérez‐Mohand, Patricia, Garzón‐Lorenzo, Lucía, Espino‐Hernández, Mar, Baro‐Fernández, María, Pérez‐Alonso, Vanesa
Published in Pediatric blood & cancer (01.07.2020)
Published in Pediatric blood & cancer (01.07.2020)
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Journal Article
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
Rodríguez‐García, María Elena, Cotrina‐Vinagre, Francisco Javier, Cruz‐Rojo, Jaime, Garzón‐Lorenzo, Lucía, Carnicero‐Rodríguez, Patricia, Pozo, Jaime Sánchez‐Del, Martínez‐Azorín, Francisco
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Pereda, Arrate, Parrón-Pajares, Manuel, de la Torre, Carolina, Vasques, Gabriela A, Funari, Mariana F A, Travessa, André M, Dias, Patrícia, Suarez-Ortega, Larisa, González-Buitrago, Jesús, Portillo-Najera, Nancy Elizabeth, Llano-Rivas, Isabel, Martín-Frías, María, Ramírez-Fernández, Joaquín, Sánchez Del Pozo, Jaime, Garzón-Lorenzo, Lucía, Martos-Moreno, Gabriel A, Alfaro-Iznaola, Cristina, Mulero-Collantes, Inés, Ruiz-Ocaña, Pablo, Casano-Sancho, Paula, Portela, Ana, Ruiz-Pérez, Lorea, Del Pozo, Angela, Vallespín, Elena, Solís, Mario, Lerario, Antônio M, González-Casado, Isabel, Ros-Pérez, Purificación, Pérez de Nanclares, Guiomar, Jorge, Alexander A L, Heath, Karen E
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
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Journal Article
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., Ramos-Gómez, Patricia, Sierra-Tomillo, Ollalla, Juárez-Rufián, Alexandra, Gallego-Merlo, Jesús, Rausell-Sánchez, Laura, Moreno-García, Marta, Sánchez del Pozo, Jaime
Published in Neurogenetics (01.10.2021)
Published in Neurogenetics (01.10.2021)
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Journal Article
Tumor-induced osteomalacia in an adolescent with an undifferentiated embryonal sarcoma of the liver
Olivas-Mazón, Raquel, Martín-Cazaña, María, Pérez-Mohand, Patricia, Garzón-Lorenzo, Lucía, Espino-Hernández, Mar, Baro-Fernández, María, Pérez-Alonso, Vanesa
Published in Pediatric blood & cancer (01.07.2020)
Published in Pediatric blood & cancer (01.07.2020)
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