Αποτελέσματα αναζήτησης - Lorda‐Sanchez, Isabel

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin από Perlado, Sara, Bustamante-Aragonés, Ana, Donas, Marta, Lorda-Sánchez, Isabel, Plaza, Javier, Rodríguez de Alba, Marta

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA από Sanchez-Jimeno, Carolina, Bustamante-Aragonés, Ana, Infantes-Barbero, Fernando, Rodriguez De Alba, Marta, Ramos, Carmen, Trujillo-Tiebas, María Jose, Lorda-Sánchez, Isabel

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe ampl... από Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies από Bustamante-Aragones †, Ana, Perlado-Marina †, Sara, Trujillo-Tiebas, Maria José, Gallego-Merlo, Jesús, Lorda-Sanchez, Isabel, Rodríguez-Ramirez, Luz, Linares, Concepcion, Hernandez, Corazón, Rodriguez de Alba, Marta

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis από Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH από Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies από Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Martin-Merida, Inmaculada, Blanco-Kelly, Fiona, Swafiri, Saoud, Lorda-Sanchez, Isabel, Trujillo-Tiebas, Maria José, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Corton, Marta, Avila-Fernandez, Almudena, Ayuso, Carmen

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations... από Sanchez-Jimeno, Carolina, Blanco-Kelly, Fiona, López-Grondona, Fermina, Losada-Del Pozo, Rebeca, Moreno, Beatriz, Rodrigo-Moreno, María, Martinez-Cayuelas, Elena, Riveiro-Alvarez, Rosa, Fenollar-Cortés, María, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders από Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome από Perea-Romero, Irene, Solarat, Carlos, Blanco-Kelly, Fiona, Sanchez-Navarro, Iker, Bea-Mascato, Brais, Martin-Salazar, Eduardo, Lorda-Sanchez, Isabel, Swafiri, Saoud Tahsin, Avila-Fernandez, Almudena, Martin-Merida, Inmaculada, Trujillo-Tiebas, Maria Jose, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Minguez, Pablo, Corton, Marta, Valverde, Diana, Ayuso, Carmen

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications από Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications από Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review από Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Martinez-Glez, Víctor, Santos-Simarro, Fernando, García-Miñaúr, Sixto, Palomares-Bralo, María, Pacio-Míguez, Marta, Gómez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrión, Juan, Arias, Patricia, Almoguera, Berta, López-Grondona, Fermina, Lorda-Sanchez, Isabel, Galán-Gómez, Enrique, Valenzuela, Irene, Méndez Perez, María Pilar, Cuscó, Ivón, Barros, Francisco, Pié, Juan, Ramos, Sergio, Ramos, Feliciano J., Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank J., Pérez-Jurado, Luis A., Carracedo, Ángel, Lapunzina, Pablo

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies από Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου