Author

Beatriz Moreno

Hospital Universitario Fundación Jiménez Díaz

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Aitor López-González· 1 shared Alberto Fernández‐JaéniD· 1 shared Ana Arteche‐LópeziD· 1 shared Anna Maria Cueto-GonzáleziD· 1 shared Antonio Federico Martínez‐MonsenyiD· 1 shared Beatriz Martínez-Menéndez· 1 shared Begoña de Azua Brea· 1 shared Belén Gil-Fournier· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aitor López-González

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1 paper

Recent·Most cited

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina López‐Grondona, Saoud Tahsin Swafiri, Rosario López‐Rodríguez, Rebeca Losada-Del Pozo, Ignacio Mahíllo, Beatriz Moreno, María Rodrigo-Moreno, Dídac Casas‐Alba, Aitor López-González, Sixto García‐Miñáur, María Ángeles Mori, Marta Pacio Miguez, Emi Rikeros‐Orozco, , Berta Almoguera

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.

Journal of Medical Genetics · Nov 29, 2022Peer-reviewedGenetic & Genomic Medicine