Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome by Carmen Hernández-Ainsa, Ester López-Gallardo, María Concepción García-Jiménez, Francisco José Climent-Alcalá, Carmen Rodríguez-Vigil, Marta García Fernández de Villalta, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador

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Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies by Shirleny R. Cardoso, Alicia C.M. Ellison, Amanda J. Walne, David Cassiman, Manoj Raghavan, Bhuvan Kishore, Philip Ancliff, Carmen Rodríguez-Vigil, Bieke Dobbels, Ana Rio-Machin, Ahad F.H. Al Seraihi, Nikolas Pontikos, Hemanth Tummala, Tom Vulliamy, Inderjeet Dokal

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Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients by Raquel Ruiz-García, Raquel Ruiz-García, Carmen Rodríguez-Vigil, Francisco Manuel Marco, Fernando Gallego-Bustos, María José Castro-Panete, María José Castro-Panete, Laura Diez-Alonso, Carlos Muñoz-Ruiz, Jesús Ruiz-Contreras, Jesús Ruiz-Contreras, Estela Paz-Artal, Estela Paz-Artal, Estela Paz-Artal, Estela Paz-Artal, Luis Ignacio González-Granado, Luis Ignacio González-Granado, Luis Miguel Allende, Luis Miguel Allende

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Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation by Maria J. Recio, Maria J. Recio, Nerea Dominguez-Pinilla, Nerea Dominguez-Pinilla, Melina Soledad Perrig, Melina Soledad Perrig, Carmen Rodriguez Vigil-Iturrate, Nerea Salmón-Rodriguez, Nerea Salmón-Rodriguez, Nerea Salmón-Rodriguez, Cristina Martinez Faci, María J. Castro-Panete, Javier Blas-Espada, Javier Blas-Espada, Marta López-Nevado, Marta López-Nevado, Raquel Ruiz-Garcia, Raquel Ruiz-Garcia, Rebeca Chaparro-García, Luis M. Allende, Luis M. Allende, Luis Ignacio Gonzalez-Granado, Luis Ignacio Gonzalez-Granado, Luis Ignacio Gonzalez-Granado

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