Suchergebnisse - "Del Castillo, Francisco J"

PubPharm (29)

1

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment : generation and functional and histopathological study

enthalten in: BMC genomics | 2024

von Domínguez-Ruiz, M. | Murillo-Cuesta, S. | Contreras, J. | +9

2

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

enthalten in: BMC genomics | 2024

von Domínguez-Ruiz, M. | Murillo-Cuesta, S. | Contreras, J. | +9

3

Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

enthalten in: Biomedicines | 2023

von Domínguez-Ruiz, M. | Ruiz-Palmero, L. | Buonfiglio, P. | +10

4

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting : A Retrospective Study

enthalten in: Biomedicines | 2023

von Stanescu, S. | Correcher Medina, P. | Del Castillo, F. | +12

5

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

enthalten in: Acta dermato-venereologica | 2023

von Saceda-Corralo, D. | Ortega-Quijano, D. | Muñoz-Martín, G. | +9

6

Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

enthalten in: Scientific reports | 2021

von Piris-Villaespesa, M. | Álvarez-Larrán, A. | Saez-Marín, A. | +8

7

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel

enthalten in: JIMD reports | 2020

von Muñoz, G. | García-Seisdedos, D. | Ciubotariu, C. | +9

8

DFNB1 Non-syndromic Hearing Impairment : Diversity of Mutations and Associated Phenotypes

enthalten in: Frontiers in molecular neuroscience | 2017

von Del Castillo, F. | Del Castillo, I.

9

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment : intrafamilial phenotypic variation complicates genetic counseling

enthalten in: Pediatric research | 2015

von Gandía, M. | Fernández-Toral, J. | Solanellas, J. | +6

10

Mutations in PRPS1 causing syndromic or non-syndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counselling

enthalten in: Pediatric research | 2015

von Gandía, M. | Fernández-Toral, J. | Solanellas, J. | +6