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Charlie De Melo

Observed names: C de Melo, Charlie DE MELO, Charlie De Melo, DE MELO, Charlie
ORCID: 0000-0002-2529-7061
Observed ORCID: 0000-0002-2529-7061
OpenAlex ID: A5014928151
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly
2012 · Vincent Marion, Fanny Stutzmann, et al. · Journal of Medical Genetics · 135
BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response
2012 · Vincent Marion, Anaïs Mockel, et al. · Cell Metabolism · 87
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A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum
2020 · Benjamin Durand, Corinne Stoetzel, et al. · European Journal of Medical Genetics · 17
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Increased expression of blood muscarinic receptors in patients with reflex syncope
2019 · Maxime Beutelstetter, Angelo Livolsi, et al. · PLoS ONE · 7
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Pediatric Intensive Care Unit mutation to adult unit during the initial COVID-19 wave: does it make sense?
2021 · Guillaume GESLAIN, Jordi MIATELLO, et al. · Minerva Anestesiologica · 4
Use of preload responsiveness tests in pediatric intensive care units: A nationwide prospective clinical practice analysis
2026 · Julien Gotchac, Alice Lecomte, et al. · Annals of Intensive Care
Kidney involvement in Bardet-Biedl syndrome: urinary concentrating defects highlight the major role of primary cilium in water reabsorption
2012 · C de Melo, A Mockel, et al. · Cilia
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Works count: 8
Citation count: 250
H-index: 4
I10-index: 3
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