Zobrazeno 1 - 10
of 726
pro vyhledávání: '"Jaeken, P."'
Autor:
Walshe, Blayney W., Baragiola, Ben Q., Ferretti, Hugo, Gefaell, José, Vasmer, Michael, Weil, Ryohei, Matsuura, Takaya, Jaeken, Thomas, Pantaleoni, Giacomo, Han, Zhihua, Hillmann, Timo, Menicucci, Nicolas C., Tzitrin, Ilan, Alexander, Rafael N.
High-rate quantum error correcting codes mitigate the imposing scale of fault-tolerant quantum computers but require the efficient generation of non-local many-body entanglement. We provide a linear-optical architecture with these properties, compati
Externí odkaz:
http://arxiv.org/abs/2408.04126
Autor:
Chiriano, Fabrizio, Morrison, Christopher L., Ho, Joseph, Jaeken, Thomas, Fedrizzi, Alessandro
Quantum networks typically operate in the telecom wavelengths to take advantage of low-loss transmission in optical fibres. However, bright quantum dots (QDs) emitting highly indistinguishable quantum states of light, such as InGaAs QDs, often emit p
Externí odkaz:
http://arxiv.org/abs/2407.08788
Autor:
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidat
Externí odkaz:
https://doaj.org/article/3cdd2f60fd6f4e29b8ff4316b5846dbb
Autor:
Jasmien Jaeken, Cathoo Billiouw, Lien Mertens, Pieter Van Bostraeten, Geertruida Bekkering, Mieke Vermandere, Bert Aertgeerts, Laura van Mileghem, Nicolas Delvaux
Publikováno v:
BMC Medical Education, Vol 24, Iss 1, Pp 1-30 (2024)
Abstract Background Shared decision making (SDM) has been presented as the preferred approach for decisions where there is more than one acceptable option and has been identified a priority feature of high-quality patient-centered care. Considering t
Externí odkaz:
https://doaj.org/article/1581277ea5164c27a72fb9c330bb6d23
Autor:
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is characterized by pro
Externí odkaz:
https://doaj.org/article/578fe2cc12a8448689f04eac191e05e3
Autor:
Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-
Externí odkaz:
https://doaj.org/article/091909c18fba460ea7072edca855db6c
Autor:
Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but
Externí odkaz:
https://doaj.org/article/cbbdc35e54714ea29f97c6f2b8dd8639
Autor:
Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101057- (2024)
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms,
Externí odkaz:
https://doaj.org/article/6931300d149b424894c7347156a86442
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Autor:
Pieter Van Bostraeten, Bert Aertgeerts, Geertruida Bekkering, Nicolas Delvaux, Anna Haers, Matisse Vanheeswyck, Alexander Vandekendelaere, Niels Van der Auwera, Charlotte Dijckmans, Elise Ostyn, Willem Soontjens, Wout Matthysen, Noémie Schenk, Lien Mertens, Jasmien Jaeken, Thomas Agoritsas, Mieke Vermandere
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 23, Iss 1, Pp 1-14 (2023)
Abstract Background Encounter decision aids (EDAs) are tools that can support shared decision making (SDM), up to the clinical encounter. However, adoption of these tools has been limited, as they are hard to produce, to keep up-to-date, and are not
Externí odkaz:
https://doaj.org/article/10506a72adc14415b23c6e4649f78579