The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole by Leticia Benítez, Montse Pauta, Cèlia Badenas, Irene Madrigal, Alfons Nadal, Edda Marimon, Antoni Borrell

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Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders by María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet, Susana Puig, Irene Madrigal

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Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes by Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill

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Transcriptomic study in explanted liver from a patient with acute intermittent porphyria by Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero

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Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome by Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Miriam Potrony, Miriam Potrony, Miriam Potrony, Jaume Bague, Jaume Bague, David J. Cutler, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Teresa Torres, Teresa Torres, Tamara Barcos, Tamara Barcos, Joan Anton Puig-Butille, Joan Anton Puig-Butille, Joan Anton Puig-Butille, Marta Rubio, Marta Rubio, Irene Madrigal, Irene Madrigal, Irene Madrigal, Susana Puig, Susana Puig, Susana Puig, Emily G. Allen, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga

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New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes by Sabiha Abekhoukh, H. Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Peter Szatmari, Isabel M. Smith, Montserrat Milà, Adam C. Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni

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Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis by Judith Cantó-Santos, Laura Valls-Roca, Ester Tobías, Francesc Josep García-García, Mariona Guitart-Mampel, Félix Andújar-Sánchez, Adrià Vilaseca-Capel, Anna Esteve-Codina, Beatriz Martín-Mur, Joan Padrosa, Emma Peruga, Irene Madrigal, Paula Segalés, Carmen García-Ruiz, José Carlos Fernández-Checa, Pedro J. Moreno-Lozano, Albert Selva O’Callaghan, Ana Sevilla, José César Milisenda, Glòria Garrabou

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