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1

Cutoff behaviour of graded-index slab waveguides

L. Torner, F. Canal, J. Hernández-Marco

Journal:

Optical and Quantum Electronics

Year:

1989

Language:

english

File:

PDF, 629 KB

english, 1989

2

Oxidant/antioxidant status and hyperfiltration in young patients with type 1 diabetes mellitus

Roberto Hernández-Marco, Pilar Codoñer-Franch, Sara Pons Morales, Cristina del Castillo Villaescusa, Laura Boix García, Victoria Valls Bellés

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 142 KB

english, 2009

3

Leaky modes in multilayer uniaxial optical waveguides

Torner, Lluis, Canal, Fernando, Hernandez-Marco, J.

Journal:

Year:

1990

Language:

english

File:

PDF, 1.00 MB

english, 1990

4

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Ramos, Mónica, Menao, Sebastián, Arnedo, María, Puisac, Beatriz, Gil-Rodríguez, María Concepción, Teresa-Rodrigo, María Esperanza, Hernández-Marcos, María, Pierre, Germaine, Ramaswami, Uma, Baquero-Mo

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 804 KB

english, 2013

5

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Baquero-Montoya, C., Gil-Rodríguez, M.C., Teresa-Rodrigo, M.E., Hernández-Marcos, M., Bueno-Lozano, G., Bueno-Martínez, I., Remeseiro, S., Fernández-Hernández, R., Bassecourt-Serra, M., Rodríguez de A

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 785 KB

english, 2014

6

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Gil-Rodríguez, María Concepción, Deardorff, Matthew A., Ansari, Morad, Tan, Christopher A., Parenti, Ilaria, Baquero-Montoya, Carolina, Ousager, Lilian B., Puisac, Beatriz, Hernández-Marcos, María, Te

Journal:

Year:

2015

Language:

english

File:

PDF, 935 KB

english, 2015

7

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Teresa-Rodrigo, María, Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María, Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan, Ciero, Milagros, Santos-S

Journal:

International Journal of Molecular Sciences

Year:

2014

Language:

english

File:

PDF, 443 KB

english, 2014

8

Special cases in Cornelia de Lange syndrome: The Spanish experience

Pié, Juan, Puisac, Beatriz, Hernández-Marcos, Maria, Teresa-Rodrigo, Maria Esperanza, Gil-Rodríguez, Maria, Baquero-Montoya, Carolina, Ramos-Cáceres, Maria, Bernal, Maria, Ayerza-Casas, Ariadna, Bueno

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2016

Language:

english

File:

PDF, 384 KB

english, 2016

9

Nosocomial Rotavirus Gastroenteritis in Spain

Gutiérrez-Gimeno, M Victoria, Martin-Moreno, Jose M., Díez-Domingo, Javier, Asensi-Botet, Francesc, Hernández-Marco, Roberto, Correcher-Medina, Patricia, Sánchez-Fauquier, Alicia

Journal:

Pediatric Infectious Disease Journal

Year:

2010

Language:

english

File:

PDF, 214 KB

english, 2010

10

Two-step ATP-driven opening of cohesin head

Marcos-Alcalde, Íñigo, Mendieta-Moreno, Jesús I., Puisac, Beatriz, Gil-Rodríguez, María Concepción, Hernández-Marcos, María, Soler-Polo, Diego, Ramos, Feliciano J., Ortega, José, Pié, Juan, Mendieta,

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 4.60 MB

english, 2017

11

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Pozojevic, Jelena, Parenti, Ilaria, Baquero-Montoya, Carolina, Gil-Rodríguez, María C., Braunholz, Diana, Dalski, Andreas, Hernández-Marcos

Journal:

BioMed Research International

Year:

2016

Language:

english

File:

PDF, 2.58 MB

english, 2016

12

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

Puisac, Beatriz, Teresa-Rodrigo, María-Esperanza, Hernández-Marcos, María, Baquero-Montoya, Carolina, Gil-Rodríguez, María-Concepción, Visnes, Torkild, Bot, Christopher, Gómez-Puertas, Paulino, Kaiser

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 3.06 MB

english, 2017

13

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd, DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan

Journal:

International Journal of Molecular Sciences

Year:

2018

Language:

english

File:

PDF, 1.70 MB

english, 2018

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