1. A phase 1, randomized double-blind, placebo controlled trial to evaluate safety and efficacy of epigallocatechin-3-gallate and cognitive training in adults with Fragile X syndrome. Issue 2 (February 2020) Authors: Cuenca-Royo, Aida; Principe, Alessandro; Hernandez, Gimena; Sánchez, Gonzalo; Rodriguez, Joan; Espadaler, Josep María; Sánchez-Gutiérrez, Judit; Langohr, Klaus; Roca, Laia; del Hoyo, Laura; Xicota, Laura; Farré, Magí; Dierssen, Mara; de la Torre, Rafasel; Fitó, Montserrat; de Sola, Susana; León, ... Journal: Clinical nutrition Issue: Volume 39:Issue 2(2020) Page Start: 378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. Issue 9 (29th March 2012) Authors: Álvarez-Mora, María Isabel; Madrigal, Irene; Rodriguez-Revenga, Laia; Mur, Antonio; Calvo, Dolors; Pascual i Bardají, Josep; Milà, Montserrat Journal: Journal of clinical pathology Issue: Volume 65:Issue 9(2012) Page Start: 844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result. Issue 4 (4th August 2020) Authors: Rodriguez‐Revenga, Laia; Madrigal, Irene; Borrell, Antoni; Martinez, Josep M.; Sabria, Joan; Martin, Lourdes; Jimenez, Wladimiro; Mira, Aurea; Badenas, Celia; Milà, Montserrat Journal: Clinical genetics Issue: Volume 98:Issue 4(2020) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. Issue 12 (30th September 2014) Authors: Madrigal, Irene; Alvarez-Mora, Maria Isabel; Karlberg, Olof; Rodríguez-Revenga, Laia; Elurbe, Dei M; Rabionet, Raquel; Mur, Antonio; Pie, Juan; Ballesta, Francisca; Sauer, Sascha; Syvänen, Ann-Christine; Milà, Montserrat Journal: Journal of clinical pathology Issue: Volume 67:Issue 12(2014) Page Start: 1099 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension. Issue 7 (20th March 2019) Authors: Puigdevall, Pau; Piccari, Lucilla; Blanco, Isabel; Barberà, Joan Albert; Geiger, Dan; Badenas, Celia; Milà, Montserrat; Castelo, Robert; Madrigal, Irene Journal: Journal of medical genetics Issue: Volume 56:Issue 7(2019) Page Start: 481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain. (28th May 2014) Authors: Tejada, María-Isabel; Glover, Guillermo; Martínez, Francisco; Guitart, Miriam; de Diego-Otero, Yolanda; Fernández-Carvajal, Isabel; Ramos, Feliciano J.; Hernández-Chico, Concepción; Pintado, Elizabet; Rosell, Jordi; Calvo, María-Teresa; Ayuso, Carmen; Ramos-Arroyo, María-Antonia; Maortua, Hiart; ... Other Names: Karaca Emin Academic Editor. Journal: BioMed research international Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Paternal transmission of a FMR1 full mutation allele. Issue 10 (16th August 2017) Authors: Alvarez‐Mora, Maria Isabel; Guitart, Miriam; Rodriguez‐Revenga, Laia; Madrigal, Irene; Gabau, Elisabeth; Milà, Montserrat Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2795 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. Issue 3 (3rd December 2018) Authors: Torabi, Keyvan; Erola, Pau; Alvarez‐Mora, Maria Isabel; Díaz‐Gay, Marcos; Ferrer, Queralt; Castells, Antoni; Castellví‐Bel, Sergi; Milà, Montserrat; Lozano, Juan José; Miró, Rosa; Ried, Thomas; Ponsa, Immaculada; Camps, Jordi Journal: International journal of cancer Issue: Volume 144:Issue 3(2019) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Reply. Issue 1 (12th December 2015) Authors: Tell‐Martí, Gemma; Puig‐Butille, Joan Anton; Potrony, Miriam; Badenas, Celia; Milà, Montserrat; Malvehy, Josep; Martí, María José; Ezquerra, Mario; Fernández‐Santiago, Rubén; Puig, Susana Journal: Annals of neurology Issue: Volume 79:Issue 1(2016:Jan.) Page Start: 161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Reply. Issue 1 (25th May 2015) Authors: Tell‐Martí, Gemma; Puig‐Butille, Joan Anton; Potrony, Miriam; Badenas, Celia; Milà, Montserrat; Malvehy, Josep; Martí, María José; Ezquerra, Mario; Fernández‐Santiago, Rubén; Puig, Susana Journal: Annals of neurology Issue: Volume 78:Issue 1(2015:Jul.) Page Start: 153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗