1. A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. Issue 6 (18th August 2014) Authors: Viñas‐Jornet, Marina; Esteba‐Castillo, Susanna; Gabau, Elisabeth; Ribas‐Vidal, Núria; Baena, Neus; San, Joan; Ruiz, Anna; Coll, Maria Dolors; Novell, Ramon; Guitart, Miriam Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 6(2014:Nov.) Page Start: 512 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. Issue 6 (1st June 1999) Authors: Ruiz, Anna; Puig, Susana; Malvehy, Josep; Lázaro, Conxi; Lynch, Michael; Gimenez-Arnau, Anna M; Puig, Lluis; Sánchez-Conejo, Julian; Estivill, Xavier; Castel, Teresa Journal: Journal of medical genetics Issue: Volume 36:Issue 6(1999) Page Start: 490 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose‐6‐phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm. (20th September 2019) Authors: Krishnevskaya, Elena; Rizzuto, Valeria; Payán‐Pernía, Salvador; Remacha, Ángel; Torrent, Montserrat; Ruiz, Anna; Badell, Isabel; Vives Corrons, Joan‐Lluis Journal: International journal of laboratory hematology Issue: Volume 42:Number 2(2020:Apr.) Page Start: e55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Issue 10 (15th December 2021) Authors: Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washingto... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing. (26th June 2014) Authors: Ruiz, Anna; Llort, Gemma; Yagüe, Carmen; Baena, Neus; Viñas, Marina; Torra, Montse; Brunet, Anna; Seguí, Miquel A.; Saigí, Eugeni; Guitart, Miriam Other Names: Cogulu Ozgur 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) ↗
6. Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome. Issue 1 (11th December 2018) Authors: Aguilera, Cinthia; Gabau, Elisabeth; Laurie, Steve; Baena, Neus; Derdak, Sophia; Capdevila, Núria; Ramirez, Ariadna; Delgadillo, Veronica; García‐Catalan, Maria Jesus; Brun, Carme; Guitart, Miriam; Ruiz, Anna Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 1(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Issue 1 (5th June 2021) Authors: Schänzer, Anne; Achleitner, Melanie T.; Trümbach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, René G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik‐Schöneborn, Sabine; ... Journal: Annals of neurology Issue: Volume 90:Issue 1(2021) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. National registry of hemoglobinopathies in Spain (REPHem). Issue 7 (2nd November 2016) Authors: Cela, Elena; Bellón, José M.; de la Cruz, María; Beléndez, Cristina; Berrueco, Rubén; Ruiz, Anna; Elorza, Izaskun; Díaz de Heredia, Cristina; Cervera, Aurea; Vallés, Griselda; Salinas, J. Antonio; Coll, M. Teresa; Bermúdez, Mar; Prudencio, Marta; Argilés, Bienvenida; Vecilla, Cruz Journal: Pediatric blood & cancer Issue: Volume 64:Issue 7(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. (25th April 2018) Authors: Thygesen, Johan H.; Wolfe, Kate; McQuillin, Andrew; Viñas-Jornet, Marina; Baena, Neus; Brison, Nathalie; D'Haenens, Greet; Esteba-Castillo, Susanna; Gabau, Elisabeth; Ribas-Vidal, Núria; Ruiz, Anna; Vermeesch, Joris; Weyts, Eddy; Novell, Ramon; Buggenhout, Griet Van; Strydom, André; Bass, Nick; G... Journal: British journal of psychiatry Issue: Volume 212:Number 5(2018) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sequential dual curing by selective Michael addition and free radical polymerization of acetoacetate-acrylate-methacrylate mixtures. (January 2018) Authors: Konuray, Ali Osman; Ruiz, Anna; Morancho, José M.; Salla, José M.; Fernández-Francos, Xavier; Serra, Àngels; Ramis, Xavier Journal: European polymer journal Issue: Volume 98(2018) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗