Хайлтын үр дүнгүүд - Tejada, Maria-Isabel

Systematic review of pharmacological treatments in fragile X syndrome -н Rueda, Jose-Ramon, Ballesteros, Javier, Tejada, Maria-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome -н Villate, Olatz, Maortua, Hiart, Tejada, María-Isabel, Llano-Rivas, Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2 -н Beristain, Elena, Ibáñez, Berta, Vergara, Itziar, Martínez-Bouzas, Cristina, Guerra, Isabel, Tejada, Maria Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study -н Merino, Sonia, Ibarluzea, Nekane, Maortua, Hiart, Prieto, Begoña, Rouco, Idoia, López-Aríztegui, Maria-Asunción, Tejada, Maria-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases -н de la Hoz, Ana Belén, Maortua, Hiart, García-Rives, Ainhoa, Martínez-González, María Jesús, Ezquerra, Maitane, Tejada, María-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Effect of AGG Interruptions on FMR1 Maternal Transmissions -н Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes -н Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) -н Sherman, Stephanie L, Curnow, Eliza C, Easley, Charles A, Jin, Peng, Hukema, Renate K, Tejada, Maria Isabel, Willemsen, Rob, Usdin, Karen

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models -н García-Alegría, Eva, Ibáñez, Berta, Mínguez, Mónica, Poch, Marisa, Valiente, Alberto, Sanz-Parra, Arantza, Martinez-Bouzas, Cristina, Beristain, Elena, Tejada, Maria-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syn... -н Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82) -н Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J., Sobrino, Beatriz, Barros, Francisco

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability -н Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain -н Maortua, Hiart, Martínez-Bouzas, Cristina, Calvo, María-Teresa, Domingo, Maria-Rosario, Ramos, Feliciano, García-Ribes, Ainhoa, Martínez, María-Jesús, López-Aríztegui, María-Asunción, Puente, Nerea, Rubio, Izaskun, Tejada, María-Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci -н Rosa-Rosa, Juan Manuel, Pita, Guillermo, Urioste, Miguel, Llort, Gemma, Brunet, Joan, Lázaro, Conxi, Blanco, Ignacio, Ramón y Cajal, Teresa, Díez, Orland, de la Hoya, Miguel, Caldés, Trinidad, Tejada, Maria-Isabel, González-Neira, Anna, Benítez, Javier

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain -н 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, Milà, Montserrat

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis -н Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R., Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E., García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability -н Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases -н Blanco, Ana, de la Hoya, Miguel, Osorio, Ana, Diez, Orland, Miramar, María Dolores, Infante, Mar, Martinez-Bouzas, Cristina, Torres, Asunción, Lasa, Adriana, Llort, Gemma, Brunet, Joan, Graña, Begoña, Perez Segura, Pedro, Garcia, María José, Gutiérrez-Enríquez, Sara, Carracedo, Ángel, Tejada, María-Isabel, Velasco, Eladio A., Calvo, María-Teresa, Balmaña, Judith, Benitez, Javier, Caldés, Trinidad, Vega, Ana

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) -н Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome -н Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах