E-LIB Suche - Ergebnisse für: Domínguez-Ruiz, María

1

A murine model for the del(GJB6-D13S1830) deletion recapitu..:

Domínguez-Ruiz, María ; Murillo-Cuesta, Silvia ; Contreras, Julio...
BMC Genomics. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Preservation of Distortion Product Otoacoustic Emissions in..:

Santarelli, Rosamaria ; Scimemi, Pietro ; Cama, Elona...
Ear & Hearing. 45 (2023) 1 - p. 250-256 , 2023

Link: https://doi.org/10.1097/..

3

Identification of the first genetic variants underlying met..:

del Castillo, Francisco J. ; Hammoud, Miloud ; Assiri, Imane...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107073 , 2023

Link: https://doi.org/10.1016/..

4

Novel Pathogenic Variants in the Gene Encoding Stereocilin ..:

Domínguez-Ruiz, María ; Ruiz-Palmero, Laura ; Buonfiglio, Paula I....
Biomedicines. 11 (2023) 11 - p. 2943 , 2023

Link: https://doi.org/10.3390/..

5

Next-generation sequencing and high-throughput enzymolome-b..:

del Castillo, Francisco J. ; Domínguez-Ruiz, María ; Hammoud, Miloud...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107072 , 2023

Link: https://doi.org/10.1016/..

6

Adult acid sphingomyelinase deficiency (Niemann-Pick diseas..:

Villarrubia, Jesús ; Muñoz, Gloria ; Ciubotariu, Crina...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S125 , 2022

Link: https://doi.org/10.1016/..

7

Genetic etiology of non-syndromic hearing loss in Europe:

del Castillo, Ignacio ; Morín, Matías ; Domínguez-Ruiz, María.
Human Genetics. , 2022

Link: https://doi.org/10.1007/..

8

Genetic screening of lysosomal disorders: An account of fiv..:

del Castillo, Francisco J. ; Muñoz, Gloria ; Gandía, Marta...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S36 , 2022

Link: https://doi.org/10.1016/..

9

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvak..:

Domínguez-Ruiz, María ; Rodríguez-Ballesteros, Montserrat ; Gandía, Marta...
Genes. 13 (2022) 1 - p. 149 , 2022

Link: https://doi.org/10.3390/..

10

NGS-based panel screening of suspected lysosomal disease ca..:

del Castillo, Francisco J. ; Muñoz, Gloria ; Domínguez-Ruiz, María...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S36 , 2022

Link: https://doi.org/10.1016/..

11

Cochlear Synaptopathy due to Mutations in OTOF Gene May Res..:

Santarelli, Rosamaria ; Scimemi, Pietro ; Costantini, Marco...
Ear & Hearing. 42 (2021) 6 - p. 1627-1639 , 2021

Link: https://doi.org/10.1097/..

12

Perrault syndrome with neurological features in a compound ..:

Domínguez-Ruiz, María ; García-Martínez, Alberto ; Corral-Juan, Marc...
Journal of Translational Medicine. 17 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

13

Diversity for olive oil composition in a collection of vari..:

Ruiz-Domínguez, María L. ; Raigón, María D. ; Prohens, Jaime
Food Research International. 54 (2013) 2 - p. 1941-1949 , 2013

Link: https://doi.org/10.1016/..

14

Production of lutein, and polyunsaturated fatty acids by th..:

Bermejo, Elisabeth ; Ruiz-Domínguez, María C. ; Cuaresma, María...
Journal of Bioscience and Bioengineering. 125 (2018) 6 - p. 669-675 , 2018

Link: https://doi.org/10.1016/..

15

Microalgae: Fast-Growth Sustainable Green Factories:

Forján, Eduardo ; Navarro, Francisco ; Cuaresma, María...
Critical Reviews in Environmental Science and Technology. 45 (2014) 16 - p. 1705-1755 , 2014

Link: https://doi.org/10.1080/..