Author

Marta Pacio Miguez

Hospital Universitario La PazORCID 0000-0003-3751-3240Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:statistical model· 1

Frequent Co-Authors

Ana Arteche‐LópeziD· 2 shared Antonio Federico Martínez‐MonsenyiD· 2 shared Dídac Casas‐AlbaiD· 2 shared Fernando Santos‐SimarroiD· 2 shared Juan Francisco Quesada‐EspinosaiD· 2 shared María Palomares‐BraloiD· 2 shared Aina Prat-PlanasiD· 1 shared Aitor López-González· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ana Arteche‐LópezORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 13, 2023

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review.

Carmen Palma Milla, Aina Prat-Planas, Emma Soengas‐Gonda…·Roser Urreizti

This paper reports eleven new TRAF7 syndrome cases, expands the phenotypic spectrum, and highlights clinical complications requiring tailored management.

DOI 10.1101/2023.12.13.23299272

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedNov 29, 2022

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…·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.

24 citations

humanstatistical model

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