Hasil Pencarian - Isabel Lorda
- Menampilkan 1 - 10 hasil dari 10
-
1
-
2
Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report oleh Marina Ugarte-Camara, Raul Fernandez-Prado, Isabel Lorda, Gabriela Rossello, Carmen Gonzalez-Enguita, Pablo Cannata-Ortiz, Alberto Ortiz
Diterbitkan 2019-05-01
Artikel -
3
Generalized dystonia without Parkinsonism in an LRRK2 carrier oleh Lola Díaz-Feliz, Cici Feliz-Feliz, Javier Del Val, Almudena Ávila-Fernández, Isabel Lorda-Sanchez, Pedro J. García-Ruiz
Diterbitkan 2022-01-01
Artikel -
4
Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood oleh Maria Jose Trujillo-Tiebas, Laura Horcajada, Marta Ruiz Ramos, Marta Rodriguez de Alba, Javier Plaza, Isabel Lorda-Sanchez, Ana Bustamante-Aragones, Sara Perlado-Marina
Diterbitkan 2013-05-01
Artikel -
5
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. oleh Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Diterbitkan 2017-01-01
Artikel -
6
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders oleh Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Diterbitkan 2021-03-01
Artikel -
7
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome oleh Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso
Diterbitkan 2022-07-01
Artikel -
8
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. oleh Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso
Diterbitkan 2016-01-01
Artikel -
9
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications oleh Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Diterbitkan 2021-01-01
Artikel -
10
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications oleh Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Diterbitkan 2021-05-01
Artikel