Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction by Monteagudo-Sánchez, Ana, Sánchez-Delgado, Marta, Mora, Jose Ramon Hernandez, Santamaría, Nuria Tubío, Gratacós, Eduard, Esteller, Manel, de Heredia, Miguel López, Nunes, Virgina, Choux, Cecile, Fauque, Patricia, de Nanclares, Guiomar Perez, Anton, Lauren, Elovitz, Michal A, Iglesias-Platas, Isabel, Monk, David

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Digenic Inheritance in Cystinuria Mouse Model by Espino, Meritxell, Font-Llitjós, Mariona, Vilches, Clara, Salido, Eduardo, Prat, Esther, López de Heredia, Miguel, Palacín, Manuel, Nunes, Virginia

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S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model by López de Heredia, Miguel, Muñoz, Lourdes, Carru, Ciriaco, Sotgia, Salvatore, Zinellu, Angelo, Serra, Carmen, Llebaria, Amadeu, Kato, Yukio, Nunes, Virginia

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Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction by Hoegg-Beiler, Maja B., Sirisi, Sònia, Orozco, Ian J., Ferrer, Isidre, Hohensee, Svea, Auberson, Muriel, Gödde, Kathrin, Vilches, Clara, de Heredia, Miguel López, Nunes, Virginia, Estévez, Raúl, Jentsch, Thomas J.

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Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study by Mayayo-Vallverdú, Clara, Prat, Esther, Vecino-Pérez, Marta, González, Laura, Gràcia-Garcia, Silvia, San Miguel, Luz, Lopera, Noelia, Arias, Angela, Artuch, Rafael, López de Heredia, Miguel, Torrecilla, Carlos, Rousaud-Barón, Ferran, Angerri, Oriol, Errasti-Murugarren, Ekaitz, Nunes, Virginia

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Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders by Lee, Evan M, Verma, Megha, Palaniappan, Nila, Pope, Emiko M, Lee, Sammie, Blacher, Lindsey, Neerumalla, Pooja, An, William, Campbell, Toko, Brown, Cris, Hurst, Stacy, Marshall, Bess, Hershey, Tamara, Nunes, Virginia, López de Heredia, Miguel, Urano, Fumihiko

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The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9−/− mouse model of cystinuria by Mayayo-Vallverdú, Clara, López de Heredia, Miguel, Prat, Esther, González, Laura, Espino Guarch, Meritxell, Vilches, Clara, Muñoz, Lourdes, Asensi, Miguel A., Serra, Carmen, Llebaria, Amadeu, Casado, Mercedes, Artuch, Rafael, Garrabou, Gloria, Garcia-Roves, Pablo M., Pallardó, Federico V., Nunes, Virginia

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Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness by Alías, Laura, López de Heredia, Miguel, Luna, Sabina, Clivillé, Núria, González-Quereda, Lídia, Gallano, Pía, de Juan, Júlia, Pujol, Albert, Diez, Santiago, Boronat, Susana, Orús, César, Lasa, Adriana, Venegas, María del Prado

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BootstRatio: A web-based statistical analysis of fold-change in qPCR and RT-qPCR data using resampling methods by Clèries, Ramon, Galvez, Jordi, Espino, Meritxell, Ribes, Josepa, Nunes, Virginia, de Heredia, Miguel López

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Novel genes and sex differences in COVID-19 severity by Cruz, Raquel, Almeida, Silvia Diz-de, Heredia, Miguel López, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Porras, Marta Sevilla, Castaño, Jair Antonio Tenorio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Campo-Pérez, Victor, Bustamante, Aranzazu Diaz, Domínguez-Garrido, Elena, Luchessi, Andre D, Eirós, Rocío, Sanabria, Gladys Mercedes Estigarribia, Fariñas, María Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, Álvarez, Beatriz González, Quirós, Fernan Gonzalez Bernaldo, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Borja, Anabel Liger, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Ángel, Mazzeu, Juliana A, Macías, Eleuterio Merayo, Minguez, Pablo, Cuerda, Victor Moreno, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, León, Soraya Ramiro, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz-Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos

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Regulation of ClC‐K/barttin by endocytosis influences distal convoluted tubule hyperplasia by Mayayo‐Vallverdú, Clara, Gaitán‐Peñas, Héctor, Armand‐Ugon, Mercedes, Muhaisen, Ashraf, Prat, Esther, Castellanos, Aida, Elorza‐Vidal, Xabier, Heredia, Miguel López, Alonso‐Gardón, Marta, Pérez‐Rius, Carla, Vecino‐Pérez, Marta, Mallen, Adrián, Errasti‐Murugarren, Ekaitz, Hueso, Miguel, Artuch, Rafael, Nunes, Virginia, Estévez, Raúl

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Resistance to enzymatic degradation and efficacy evaluation of crosslinked hyaluronic acid based commercial viscosupplements for knee osteoarthritis treatment by Andrade del Olmo, Jon, Sáez Martínez, Virginia, Martínez de Cestafe, Nagore, Alonso, José María, Goenaga Ibeas, Claudia, Ucelay López de Heredia, Miguel, Benito Cid, Sandra, Pérez González, Raúl

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Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids by Vilches, Clara, Boiadjieva-Knöpfel, Emilia, Bodoy, Susanna, Camargo, Simone, López de Heredia, Miguel, Prat, Esther, Ormazabal, Aida, Artuch, Rafael, Zorzano, Antonio, Verrey, François, Nunes, Virginia, Palacín, Manuel

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Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents by Capdevila-Nortes, Xavier, López-Hernández, Tania, Apaja, Pirjo M, López de Heredia, Miguel, Sirisi, Sònia, Callejo, Gerard, Arnedo, Tanit, Nunes, Virginia, Lukacs, Gergely L, Gasull, Xavier, Estévez, Raúl

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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model by Duarri, Anna, Lopez de Heredia, Miguel, Capdevila-Nortes, Xavier, Ridder, Margreet C, Montolio, Marisol, López-Hernández, Tania, Boor, Ilja, Lien, Chun-Fu, Hagemann, Tracy, Messing, Albee, Gorecki, Dariusz C, Scheper, Gert C, Martínez, Albert, Nunes, Virginia, van der Knaap, Marjo S, Estévez, Raúl

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mRNA localization and the cytoskeleton by de Heredia, Miguel López, Jansen, Ralf-Peter

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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome by Farmer, Amy, Aymé, Ségolène, de Heredia, Miguel Lopez, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes, Virginia, Parkinson, Kay, Paquis-Flucklinger, Véronique, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjaerg, Lisbeth, Barrett, Timothy G

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Effectiveness evaluation of hyaluronic acid-based commercial eye drops to treat ophthalmic dry eye disease by Andrade del Olmo, Jon, Sáez Martínez, Virginia, Martínez de Cestafe, Nagore, Alonso, José María, Olavarrieta, Cristina, Ucelay López de Heredia, Miguel, Benito Cid, Sandra, Pérez González, Raúl

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The bioenergetic signature of cancer: A marker of tumor progression by CUEZVA, José M, KRAJEWSKA, Maryla, LOPEZ DE HEREDIA, Miguel, KRAJEWSKI, Stanislaw, SANTAMARIA, Gema, KIM, Hoguen, ZAPATA, Juan M, MARUSAWA, Hiroyuki, CHAMORRO, Margarita, REED, John C

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative by Luque, Juan, Webb, Susan M., Aguado, Carmen, Almoguera, Berta, Arjona, Emi, Masó, Anna Aulinas, Badell, Isabel, Baiget, Montserrat, Benito Sanz, Sara, Borralleras, Cristina, Borrego, Salud, Bou de Pieri, Francesc, Cámara, Yolanda, Camats‐Tarruella, Núria, Cantarero, Lara, Caparrós‐Martín, JoséAntonio, Casado, Mercedes, Cascón, Alberto, Catala, Albert, Cediel, Rafael, Cervera, Javier, Contreras, Julio, Cormand, Bru, Corral, Javier, Corton, Marta, Costa‐Roger, Mar, Crispi, Fátima, Cuezva, JoséM., Dalmau, Josep, Luna, Susana, del Castillo, Ignacio, Del Pozo, Ángela, del Río, Marcela, Escámez, María José, Fernández‐Cancio, Mónica, Fernández‐San Jose, Patricia, Gallardo, Eduard, García‐Redondo, Alberto, Teresa García‐Silva, M., García‐Villoria, Judit, García Santiago, Fe, Garrido, Gema, Giroud‐Gerbetant, Judith, Gonzalez‐Cabo, Pilar, Gonzalez‐Casacuberta, Ingrid, González‐Quintana, Adrián, Gort, Laura, Herreras, Enrique, Jimenez‐Mallebrera, Cecilia, Luz Juarez‐Flores, Diana, Lapunzina, Pablo, López‐Laso, Eduardo, López de Heredia, Miguel, Lorda‐Sanchez, Isabel, Luque, Juan, Marfany, Gemma, Martí, Ramón, Martin, Yolanda, Martin‐Merida, Inmaculada, Martinez‐Delgado, Beatriz, Carmen Martínez‐Romero, María, Millán, JoséM., Molla, Belén, Moltó, Eduardo, Montero, Raquel, Montoliu, Lluis, Moreno, JoséCarlos, A Mori, María, Morte, Beatriz, Muñoz‐Pujol, Gerard, Murillo‐Cuesta, Silvia, Navarro, Susana, Navas, Plácido, Ángela Nieto, M., O′Callaghan, Mar, Olavarrieta, Leticia, Ormazabal, Aida, Ortiz‐Romero, Paula, Osorio, Ana, Palencia‐Campos, Adrián, Pie, Juan, Pinto, Sheila, Ranea, Juan A.G., Reina‐Castillón, Judith, Robledo, Mercedes, Carlos Rodriguez‐Aguilera, Juan, Rodríguez‐Palmero, Agustí, Romá‐Mateo, Carlos, Ruiz, Montserrat, Ruiz‐Arenas, Carlos, Santacatterina, Fulvio, Santamarina, Marta, Santos‐Ocaña, Carlos, Santos Simarro, Fernando, Schlüter, Agatha, Tizzano, Eduardo, Tort, Frederic, Vega, Ana, Vélez‐Santamaria, Valentina, Vílchez, Juan J.

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