Suchergebnisse - "Quesada-Espinosa, Juan Francisco"

PubPharm (22)

1

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

enthalten in: bioRxiv.org | 2024

von Martínez-Cayuelas, E. | Blanco-Kelly, F. | López-Grondona, F. | +49

2

Genetic diagnosis of childhood sensorineural hearing loss

enthalten in: Acta otorrinolaringologica espanola | 2024

von Reda Del Barrio, S. | García Fernández, A. | Quesada-Espinosa, J. | +5

3

Diagnostic yield of genetic testing in adults with sensorineural hearing loss

enthalten in: Acta otorrinolaringologica espanola | 2024

von Reda Del Barrio, S. | de Vergas Gutiérrez, J. | Quesada-Espinosa, J. | +5

4

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome

enthalten in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2024

von Bada-Bosch, T. | Sevillano, A. | Teresa Sánchez-Calvin, M. | +13

5

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome : addition of 67 new patients

enthalten in: Journal of medical genetics | 2023

von Martinez-Cayuelas, E. | Blanco-Kelly, F. | Lopez-Grondona, F. | +49

6

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene

enthalten in: Clinical genetics | 2023

von Arteche-López, A. | Avila-Fernandez, A. | Damian, A. | +11

7

Expanding the Phenotypic Spectrum of Alazami Syndrome : Two Unrelated Spanish Families

enthalten in: Neuropediatrics | 2023

von Soengas-Gonda, E. | Pérez de la Fuente, R. | Arteche-López, A. | +17

8

Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene

enthalten in: Muscle & nerve | 2022

von Martín-Jiménez, P. | Fuenmayor-Fernández de la Hoz, C. | Hernández-Laín, A. | +6

9

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene : Case Report and Literature Review

enthalten in: Genes | 2022

von Gómez-Rodríguez, M. | Morales-Conejo, M. | Arteche-López, A. | +10

10

Hereditary cerebral small vessel disease : Assessment of a HTRA1 variant using protein stability predictors and 3D modelling

enthalten in: European journal of medical genetics | 2022

von Hidalgo Mayoral, I. | Martínez-Salio, A. | Llamas-Velasco, S. | +16