Beatriz San Millan: search on Z-Library

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1

Fabry disease in the Spanish population: observational study with detection of 77 patients

Vieitez, Irene, Souto-Rodriguez, Olga, Fernandez-Mosquera, Lorena, San Millan, Beatriz, Teijeira, Susana, Fernandez-Martin, Julian, Martinez-Sanchez, Felisa, Aldamiz-Echevarria, Luis Jose, Lopez-Rodri

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 996 KB

english, 2018

2

Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations

Irene Vieitez, Susana Teijeira, Jose M. Fernandez, Beatriz San Millan, Sara Miranda, Saida Ortolano, Sarah Louis, Pascal Laforet, Carmen Navarro

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 495 KB

english, 2011

3

Acute Necrotizing Encephalopathy of Childhood: Report of a Spanish Case

Beatriz San Millan, Susana Teijeira, Carmen Penin, Jose L. Garcia, Carmen Navarro

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 309 KB

english, 2007

4

Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease

Knecht, Erwin, Criado-García, Olga, Aguado, Carmen, Gayarre, Javier, Duran-Trio, Lara, Garcia-Cabrero, Ana M., Vernia, Santiago, San Millán, Beatriz, Heredia, Miguel, Romá-Mateo, Carlos, Mouron, Silva

Journal:

Year:

2012

Language:

english

File:

PDF, 270 KB

english, 2012

5

The TP73 complex network: Ready for clinical translation in cancer?

Soldevilla, Beatriz, Millán, Coral San, Bonilla, Félix, Domínguez, Gemma

Journal:

Genes, Chromosomes and Cancer

Year:

2013

Language:

english

File:

PDF, 334 KB

english, 2013

6

Miopatía por deficiencia de mioadenilato desaminasa desencadenada por el tratamiento con atorvastatina

García-Estévez, Daniel A., San Millán, Beatriz, Navarro, Carmen, Sogo, Teresa

Journal:

Medicina Clínica

Year:

2013

File:

PDF, 418 KB

2013

7

THE LANCET.

García-Estévez, Daniel A., San Millán, Beatriz, Navarro, Carmen, Sogo, Teresa

Journal:

Year:

1884

Language:

english

File:

PDF, 1020 KB

english, 1884

8

Editorial Board

García-Estévez, Daniel A., San Millán, Beatriz, Navarro, Carmen, Sogo, Teresa

Journal:

Neuroscience Letters

Year:

1993

Language:

english

File:

PDF, 27 KB

english, 1993

9

Gliomatose cérébrale diffuse : étude biopsique et autopsique d’un cas

Millan, Beatriz San, Kaci, Rachid, Polivka, Marc, Robert, Gilles, Héran, Françoise, Gueguen, Antoine, Mokhtari, Karima, Gray, Françoise

Journal:

Annales de Pathologie

Year:

2010

File:

PDF, 1.97 MB

2010

10

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type

San Millan, Beatriz, Teijeira, Susana, Domínguez, Carmen, Vieitez, Irene, Navarro, Carmen

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 464 KB

english, 2010

11

Another Application of PAX8

Ortiz-Rey, José A., Juaneda-Benavides, Laura, Peteiro-Cancelo, Ángeles, de María, Carolina Gómez, Tejado, Beatriz San Millán, Tardío-Baigés, Antoni

Journal:

Applied Immunohistochemistry & Molecular Morphology

Year:

2015

Language:

english

File:

PDF, 151 KB

english, 2015

12

Enfermedad de McArdle: presentación de 2 casos clínicos

Diez Morrondo, Carolina, Pantoja Zarza, Lucía, San Millán Tejado, Beatriz

Journal:

Reumatología Clínica

Year:

2015

File:

PDF, 1.49 MB

2015

13

Erratum to

Knecht, Erwin, Criado-García, Olga, Aguado, Carmen, Gayarre, Javier, Duran-Trio, Lara, Garcia-Cabrero, Ana M., Vernia, Santiago, San Millán, Beatriz, Heredia, Miguel, Romá-Mateo, Carlos, Mouron, Silva

Journal:

Year:

2012

File:

PDF, 668 KB

2012

14

McArdle Disease: 2 Case Reports

Diez Morrondo, Carolina, Pantoja Zarza, Lucía, San Millán Tejado, Beatriz

Journal:

Reumatología Clínica

Year:

2016

Language:

english

File:

PDF, 1.43 MB

english, 2016

15

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

García-Sobrino, Tania, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, San Millán, Beatriz, Arias, Manuel, Sobrido, María-Jesús, Pardo, Julio

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 775 KB

english, 2017

16

SBF1mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

Manole, Andreea, Horga, Alejandro, Gamez, Josep, Raguer, Nuria, Salvado, Maria, San Millán, Beatriz, Navarro, Carmen, Pittmann, Alan, Reilly, Mary M., Houlden, Henry

Journal:

Year:

2017

Language:

english

File:

PDF, 575 KB

english, 2017

17

Curva de aprendizaje de la punción aspiración con aguja fina de tiroides

Penín, Manuel, Martín, M. Ángeles, San Millán, Beatriz, García, Juana

Journal:

Endocrinología, Diabetes y Nutrición

Year:

2017

File:

PDF, 380 KB

2017

18

Functional evaluation of an AAV9 based vector expressing alpha-galactosidase A for potential gene therapy of Fabry disease

Ortolano, Saida, Biferi, Maria G., Millán, Beatriz San, Souto, Olga, Vieitez, Irene, Fernández-Lorenzo, Jose R., Fernandez-Martin, Julian J., Barkats, Martine

Journal:

Molecular Genetics and Metabolism

Year:

2019

File:

PDF, 83 KB

2019

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