Concepedia

Cláudia Fernandes Lorea

CF

Statistics

Publications

3

Citations

142

H-Index

3

Active since

2020

Affiliations

Universidade Federal de Pelotas(Current)

Radboud University Medical Center

Hospital de Clínicas de Porto Alegre

Mayo Clinic

Amsterdam Neuroscience

Cláudia Fernandes Lorea is an author at Universidade Federal de Pelotas specializing in life sciences, cohort study investigation, and splice-site mutations.

ORCID

Publications per year

2020–2021

3

Publications

3

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 113 citations · Full text

, , +3

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

Carson J. Bryant, Cláudia Fernandes Lorea, Hiram Larangeira de Almeida et al. · Proceedings of the National Academy of Sciences · 2021 · 19 citations · Full text

, , +16

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

Ferdy S. van Geest, Marcel E. Meima, Kyra E. Stuurman et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 10 citations · Full text

, , +16

1–3 of 3