Comparing the Sexual Reproductive Success of Two Exotic Trees Invading Spanish Riparian Forests vs. a Native Reference

por Cabra-Rivas, Isabel, Castro-Díez, Pilar
Publicado 2016

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

por Villate, Olatz, Maortua, Hiart, Tejada, María-Isabel, Llano-Rivas, Isabel
Publicado 2022

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

por Manero-Azua, Africa, Pereda, Arrate, Llano-Rivas, Isabel, Garin, Intza, Perez de Nanclares, Guiomar
Publicado 2023

Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

por Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar
Publicado 2020

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

por Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar
Publicado 2018

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

por Alba-Pavón, Piedad, Astigarraga, Itziar, Alaña, Lide, Llano-Rivas, Isabel, Gener, Blanca, Mosteiro, Lorena, López-Almaraz, Ricardo, Echebarria-Barona, Aizpea, Villate, Olatz
Publicado 2023

The Value of Merging Medical Data from Ambulance Services and General Practice Cooperatives Using Triple Aim Outcomes

por Minderhout, Rosa Naomi, Vos, Hedwig M. M., van Grunsven, Pierre M., de la Torre y Rivas, Isabel, Alkir-Yurt, Sevde, Numans, Mattijs E., Bruijnzeels, Marc A.
Publicado 2021

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis()

por Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina
Publicado 2014

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

por Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent
Publicado 2016

CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1

por Nag, Abhishek, Bochukova, Elena G., Kremeyer, Barbara, Campbell, Desmond D., Muller, Heike, Valencia-Duarte, Ana V., Cardona, Julio, Rivas, Isabel C., Mesa, Sandra C., Cuartas, Mauricio, Garcia, Jharley, Bedoya, Gabriel, Cornejo, William, Herrera, Luis D., Romero, Roxana, Fournier, Eduardo, Reus, Victor I., Lowe, Thomas L., Farooqi, I. Sadaf, Mathews, Carol A., McGrath, Lauren M., Yu, Dongmei, Cook, Ed, Wang, Kai, Scharf, Jeremiah M., Pauls, David L., Freimer, Nelson B., Plagnol, Vincent, Ruiz-Linares, Andrés
Publicado 2013

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

por Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Publicado 2019

Incidence and clinical profile of venous thromboembolism in hospitalized COVID-19 patients from Madrid region

por Arribalzaga, Karmele, Martínez-Alfonzo, Inés, Díaz-Aizpún, Carola, Gutiérrez-Jomarrón, Isabel, Rodríguez, Mario, Castro Quismondo, Nerea, Pérez-Fernández, Elia, Velasco-Rodríguez, Diego, Gómez, Elvira, Fernández, Begoña, Vilches, Alba, Martín-Herrero, Sara, Castilla, Lucía, Blanco, María Jesús, Gutiérrez, María del Mar, Rivas, Isabel, Pascual, Cristina, Rosado, Belén, Sola, Elena, Vidal-Laso, Rosa, Asenjo, Susana, Mora Casado, María Asunción, Benito-Parra, Laurentino, Carmona, Itziar, Marín, Karen, Acedo, Natalia, García-León, Natalia, Marcheco, Alexis, Guillén, Carolina, Fernández, Cristina, Rodríguez, Ramón, Pardo, Laura, Silva, Pablo, Montero, Laura, Meijón, Mar, Massó, Pilar, Llamas-Sillero, Pilar
Publicado 2021

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado 2015