Suchergebnisse - "Alvarez-Mora, Maria Isabel"

PubPharm (52)

1

A novel NONO nonsense variant in a fetus with renal abnormalities

enthalten in: Prenatal diagnosis | 2024

von Rodriguez-Revenga, L. | Nadal, A. | Borobio, V. | +4

2

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome : Addressing Study Limitations and Insights for Future Research

enthalten in: Cells | 2023

von Alvarez-Mora, M. | Garrabou, G. | Molina-Porcel, L. | +5

3

KCNT2-Related Disorders : Phenotypes, Functional, and Pharmacological Properties

enthalten in: Annals of neurology | 2023

von Cioclu, M. | Mosca, I. | Ambrosino, P. | +38

4

Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans

enthalten in: Liver international : official journal of the International Association for the Study of the Liver | 2023

von Córdoba-Jover, B. | Ribera, J. | Portolés, I. | +22

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

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

enthalten in: Genes | 2023

von Alvarez-Mora, M. | Rodríguez-Revenga, L. | Jodar, M. | +13

7

Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment

enthalten in: Nephron | 2023

von Rodríguez-Espinosa, D. | Broseta, J. | Bastida, C. | +12

8

Special Issue : Genetics of Psychiatric Disease and the Basics of Neurobiology

enthalten in: Genes | 2022

von Rodriguez-Revenga, L. | Alvarez-Mora, M.

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

Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 patients

enthalten in: ResearchSquare.com | 2022

von Alvarez-Mora, M. | Podlesniy, P. | Riazuelo, T. | +3

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