Abnormal outer hair cell efferent innervation in Hoxb1-dependent sensorineural hearing loss von Di Bonito, Maria, Bourien, Jérôme, Tizzano, Monica, Harrus, Anne-Gabrielle, Puel, Jean-Luc, Avallone, Bice, Nouvian, Regis, Studer, Michèle

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Ketogal Safety Profile in Human Primary Colonic Epithelial Cells and in Mice von Sodano, Federica, Avallone, Bice, Tizzano, Monica, Fogliano, Chiara, Rolando, Barbara, Gazzano, Elena, Riganti, Chiara, Magliocca, Salvatore, Cuozzo, Mariarosaria, Albrizio, Stefania, Calignano, Antonio, Cristiano, Claudia, Russo, Roberto, Rimoli, Maria Grazia

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Effects of four food dyes on development of three model species, Cucumis sativus, Artemia salina and Danio rerio: Assessment of potential risk for the environment von Motta, Chiara Maria, Simoniello, Palma, Arena, Carmen, Capriello, Teresa, Panzuto, Raffaele, Vitale, Ermenegilda, Agnisola, Claudio, Tizzano, Monica, Avallone, Bice, Ferrandino, Ida

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Gross anatomy and ultrastructure of Moorish Gecko, Tarentola mauritanica skin von Avallone, Bice, Tizzano, Monica, Cerciello, Raimondo, Buglione, Maria, Fulgione, Domenico

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Long term exposure to cadmium: Pathological effects on kidney tubules cells in Sparus aurata juveniles von Avallone, Bice, Cerciello, Raimondo, Cretì, Patrizia, Pizzoleo, Carmela, Scudiero, Rosaria, Tizzano, Monica, Panzuto, Raffaele, Simoniello, Palma, Montinari, Maria Rosa, Motta, Chiara M.

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 von Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M, Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F

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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient von Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.

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Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain) von Martin‐Nalda, Andrea, Cueto‐González, Anna M., Argudo‐Ramírez, Ana, Marin‐Soria, Jose L., Martinez‐Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F., Soler‐Palacin, Pere

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Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser von Martín-Salces, Mónica, Venceslá, Adoración, Alvárez-Román, María Teresa, Rivas, Isabel, Fernández, Ihosvany, Butta, Nora, Baena, Manel, Fuentes-Prior, Pablo, Tizzano, Eduardo F., Jiménez-Yuste, Víctor

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Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice von Mates, Jesus, Mademont-Soler, Irene, Del Olmo, Bernat, Ferrer-Costa, Carles, Coll, Monica, Pérez-Serra, Alexandra, Picó, Ferran, Allegue, Catarina, Fernandez-Falgueras, Anna, Álvarez, Patricia, Yotti, Raquel, Espinosa, Maria Angeles, Sarquella-Brugada, Georgia, Cesar, Sergi, Carro, Ester, Brugada, Josep, Arbelo, Elena, Garcia-Pavia, Pablo, Borregan, Mar, Tizzano, Eduardo, López-Granados, Amador, Mazuelos, Francisco, Díaz de Bustamante, Aranzazu, Darnaude, Maria Teresa, González-Hevia, José Ignacio, Díaz-Flores, Felícitas, Trujillo, Francisco, Iglesias, Anna, Fernandez-Aviles, Francisco, Campuzano, Oscar, Brugada, Ramon

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Molecular characterization of Spanish patients with MECP2 duplication syndrome von Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 von Blasco Pérez, Laura, Costa Roger, Mar, Leno Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina Solà, Marta, Martínez Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M, Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei Hansen, Christina Engel, Moreno Escribano, Antonio, Guillén Navarro, Encarna, Costa Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano Ferrari, Eduardo

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative von 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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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases von Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R, Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A, Beltran, Sergi

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Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient von Cueto-González, Anna M, Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F

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First report of viral infections that affect argentine honeybees von Reynaldi, Francisco José, Sguazza, Guillermo Hernán, Pecoraro, Marcelo Ricardo, Tizzano, Marco Andrés, Galosi, Cecilia Mónica

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Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites von Venceslá, Adoración, Corral-Rodríguez, María Ángeles, Baena, Manel, Cornet, Mónica, Domènech, Montserrat, Baiget, Montserrat, Fuentes-Prior, Pablo, Tizzano, Eduardo F.

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Front Cover von Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, del Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith

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Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia von Baz-Redón, Noelia, Rovira-Amigo, Sandra, Paramonov, Ida, Castillo-Corullón, Silvia, Cols-Roig, Maria, Antolín, María, García-Arumí, Elena, Torrent-Vernetta, Alba, de Mir Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Caballero-Rabasco, M. Araceli, Asensio de la Cruz, Óscar, Vizmanos-Lamotte, Gerardo, Martín de Vicente, Carlos, Martínez-Colls, María del Mar, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Polverino, Eva, Amengual Pieras, Esther, Amaro-Rodríguez, Rosanel, Garrido-Pontnou, Marta, Tizzano, Eduardo, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Moreno-Galdó, Antonio

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Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative Real-Time PCR analysis von Tizzano, Eduardo F., Barceló, María J., Baena, Manel, Cornet, Mónica, Venceslá, Adoración, Mateo, José, Fontcuberta, Jordi, Baiget, Montserrat

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