Concepedia

Laura Trujillano

LT

Statistics

Publications

4

Citations

142

H-Index

4

Active since

2020

Affiliations

Tbilisi State Medical University(Current)

Universidad de Zaragoza

University of Duisburg-Essen

Universidad Autónoma de Madrid

Centro de Biología Molecular Severo Ochoa

Laura Trujillano is an author at Tbilisi State Medical University specializing in genetic epidemiology, medicine, and pathology.

ORCID

Top concepts

Publications per year

2020–2023

4

Publications

4

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Ana Latorre, Ángela Ascaso, Laura Trujillano et al. · International Journal of Molecular Sciences · 2020 · 69 citations · Full text

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Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata et al. · Human Molecular Genetics · 2022 · 28 citations · Full text

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Ana Latorre, Marta Gil‐Salvador, Ilaria Parenti et al. · Scientific Reports · 2021 · 23 citations · Full text

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Ariane Schmetz, Hermann‐Josef Lüdecke, Harald Surowy et al. · Human Genetics · 2023 · 22 citations

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