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Author/Creator Baena, Neus

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
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2. Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients. Issue 4 (5th March 2014)

Authors:
Lehalle, Daphné; Gordon, Christopher T.; Oufadem, Myriam; Goudefroye, Géraldine; Boutaud, Lucile; Alessandri, Jean‐Luc; Baena, Neus; Baujat, Geneviève; Baumann, Clarisse; Boute‐Benejean, Odile; Caumes, Roseline; Decaestecker, Charles; Gaillard, Dominique; Goldenberg, Alice; Gonzales, Marie; Holde...
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
478
Record Type:
Journal Article
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3. 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
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4. 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
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5. Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules. Issue 2 (12th December 2019)

Authors:
Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel, Bernat; Alibés, Andreu; Baena, Neus; Pineda, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro, Conxi; Blanco, Ignacio; Vilageliu, Lluïsa; Brems, Hilde; Grinberg, Daniel; Legius, Eric; Serra, Eduard
Journal:
Clinical genetics
Issue:
Volume 97:Issue 2(2020)
Page Start:
264
Record Type:
Journal Article
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6. 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
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7. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. (July 2019)

Authors:
Maria del Mar, O'Callaghan; Garcia-Cazorla, Àngels; del Carmen Serrano Munuera, Maria; García, Silvia Cuso; Troncoso, Monica; Fariña, Guillermo; García Peñas, Juan José; Fournier, Belen Gil; León, Soraya Ramiro; Guitart, Miriam; Baena, Neus; de Nanclares, Guiomar Perez; Oci, Intzane Ocio; Gutiérr...
Journal:
European journal of paediatric neurology
Issue:
Volume 23:Number 4(2019:Jul.)
Page Start:
609
Record Type:
Journal Article
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