Current Status of Genetic Counselling for Rare Diseases in Spain od Sara Álvaro-Sánchez, Irene Abreu-Rodríguez, Anna Abulí, Clara Serra-Juhe, Maria del Carmen Garrido-Navas

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The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era od Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano

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A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome od Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut

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Genetic Variants Associated with Colorectal Adenoma Susceptibility. od Anna Abulí, Antoni Castells, Luis Bujanda, Juan José Lozano, Xavier Bessa, Cristina Hernández, Cristina Álvarez-Urturi, Maria Pellisé, Clara Esteban-Jurado, Elizabeth Hijona, Andrea Burón, Francesc Macià, Jaume Grau, Rafael Guayta, Sergi Castellví-Bel, Montserrat Andreu, PROCOLON research group

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Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort. od Ceres Fernández-Rozadilla, Luisa de Castro, Juan Clofent, Alejandro Brea-Fernández, Xavier Bessa, Anna Abulí, Montserrat Andreu, Rodrigo Jover, Rosa Xicola, Xavier Llor, Antoni Castells, Sergi Castellví-Bel, Angel Carracedo, Clara Ruiz-Ponte, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders od Katrine M. Johannesen, Katrine M. Johannesen, Jimmi Nielsen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jakob Christensen, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Rikke S. Møller, Guido Rubboli, Guido Rubboli

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The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. od Anna Abulí, Luis Bujanda, Jenifer Muñoz, Stephan Buch, Clemens Schafmayer, Maria Valeria Maiorana, Silvia Veneroni, Tom van Wezel, Tao Liu, Helga Westers, Clara Esteban-Jurado, Teresa Ocaña, Josep M Piqué, Montserrat Andreu, Rodrigo Jover, Angel Carracedo, Rosa M Xicola, Xavier Llor, Antoni Castells, EPICOLON Consortium, Malcolm Dunlop, Robert Hofstra, Annika Lindblom, Juul Wijnen, Paolo Peterlongo, Jochen Hampe, Clara Ruiz-Ponte, Sergi Castellví-Bel

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Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders od Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders od Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

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