E-LIB Suche - Ergebnisse für: del Castillo, Francisco

1

The utilization of a combination of TLC-UHPL/MS-MS and mole..:

Hammoud, Miloud ; Assiri, Imane ; Lafhal, Karima...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107872 , 2024

2

Descriptive study of patients with Gaucher disease type 3 i..:

Giraldo, Pilar ; Stanescu, Sinziana ; Medina, Patricia Correcher...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107843 , 2024

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

3

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/..

4

Niveles de las inteligencias múltiples del estudiantado de ..:

Chen, Megan ; Mattina, Claudio ; Feng, Amy..
Revista Electrónica Educare. 27 (2023) 2 - p. 1-25 , 2023

Link: https://doi.org/10.15359..

5

Isolated lactosylceramide storage: Is it the consequence of..:

Fdil, Naima ; Hammoud, Miloud ; Assiri, Imane...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107095 , 2023

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

6

Clinical Outcomes of Patients with Chronic Neuropathic Form..:

Stanescu, Sinziana ; Correcher Medina, Patricia ; del Castillo, Francisco J....
Biomedicines. 11 (2023) 10 - p. 2861 , 2023

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

7

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/..

8

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/..

9

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and..:

Saceda-Corralo, David ; Ortega-Quijano, Daniel ; Muñoz-Martín, Gloria...
Acta Dermato-Venereologica. 103 (2023) - p. adv9604 , 2023

Link: https://doi.org/10.2340/..

10

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/..

11

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/..

12

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/..

13

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/..

14

Development and validation of a sequential two-step algorit..:

Piris-Villaespesa, Miguel ; Álvarez-Larrán, Alberto ; Saez-Marín, Adolfo...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

15

Diagnosis of 4 novel cases of adult acid sphyngomielynase d..:

Villarrubia, Jesús ; Muñoz, Gloria ; Gandía, Marta...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S156 , 2020

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