المؤلفون: Palmeira, Leonor, HELOU, Laura, KARSSEN, Lennart C., Grentzinger, Victor, CHARLOTEAUX, Benoit, Bours, Vincent

المصدر: Open Science Day 2024, 07 November 2024

مصطلحات موضوعية: Human health sciences, Laboratory medicine & medical technology, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale

URL الوصول: https://orbi.uliege.be/handle/2268/324425

المؤلفون: Grentzinger, Victor, Artesi, Maria, Palmeira, Leonor, Durkin, Keith, Bours, Vincent

المصدر: SFMBBM PhD Day 2024, Namur, Belgium [BE], 15/11/2024

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

URL الوصول: https://orbi.uliege.be/handle/2268/324344

المؤلفون: Grentzinger, Victor, Artesi, Maria, Palmeira, Leonor, Dideberg, Vinciane, Olivier, Sabine, Bours, Vincent, Durkin, Keith

المصدر: byteMAL 2024, Maastricht, Netherlands [NL], 24/04/2024

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

URL الوصول: https://orbi.uliege.be/handle/2268/316870

المؤلفون: Dangouloff, Tamara, Hovhannesyan, Kristine, Mashhadizadeh, Davood, MINNER, Frédéric, Mni, Myriam, Helou, Laura, Piazzon, Flavia, Palmeira, Leonor, Boemer, François, Servais, Laurent

المصدر: Children, 11 (8), 926 (2024-07-30)

مصطلحات موضوعية: genomic, newborn screening, targeted next-generation sequencing, treatable disease, Pediatrics, Perinatology and Child Health, Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://www.mdpi.com/2227-9067/11/8/926/pdf; urn:issn:2227-9067

URL الوصول: https://orbi.uliege.be/handle/2268/326120

المؤلفون: Grentzinger, Victor, Durkin, Keith William, Palmeira, Leonor, Artesi, Maria, Olivier, Sabine, Bours, Vincent

المصدر: SFMBBM PhD Day, Liège, Belgium [BE], 24/11/2023

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

URL الوصول: https://orbi.uliege.be/handle/2268/312581

المؤلفون: Grentzinger, Victor, GRISART, Bernard, Meynsbrughen, Maxime, Artesi, Maria, Palmeira, Leonor, Dideberg, Vinciane, CHARLOTEAUX, Benoit, Durkin, Keith William, Brysse, Anne, Bours, Vincent

المصدر: Annual Meeting @ Living Tomorrow Vilvoorde, Vilvoorde, Belgium [BE], 25/05/2023

مصطلحات موضوعية: Human health sciences, Urology & nephrology, Sciences de la santé humaine, Urologie & néphrologie

URL الوصول: https://orbi.uliege.be/handle/2268/312582

المؤلفون: Dangouloff, Tamara, MOURAUX, Charlotte, Piazzon, Flavia, Mashhadizadeh, Davood, Hovhannesyan, Kristine, Helou, Laura, Palmeira, Leonor, Boemer, François, Servais, Laurent

المصدر: 33e Séminaire de Génétique Clinique, Angers, France [FR], 02 et 03 Février 2023

مصطلحات موضوعية: Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

URL الوصول: https://orbi.uliege.be/handle/2268/300110

المؤلفون: Trivellin, Giampaolo, Janjic, Maria, Larco, Darwin, Tomic, Melanija, Daly, Adrian, Palmeira, Leonor, Faucz, BECKERS, Albert, Wu, T John, Calebiro, Davide, Stojilkovic, Stanko, Stratakis, Constantine

المصدر: ENDO 2017-The 99th Annual Congress of the Endocrine Society, Orlando, Florida, United States [US], April 1-4 2017

مصطلحات موضوعية: Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

URL الوصول: https://orbi.uliege.be/handle/2268/209427

المؤلفون: Harvengt, Julie, Lumaka, A, Fasquelle, Corinne, CABERG, Jean-Hubert, Mastouri, M, JANSSEN, Aurélie, Palmeira, Leonor, Bours, Vincent

المصدر: Frontiers in Genetics, 14, 1137767 (2023-03-22)

مصطلحات موضوعية: HIDEA syndrome, P4HTM, ROHHAD, central hypoventilation, childhood obesity, hypothalamic dysfunction and autonomic dysregulation, rapid-onset obesity with hypoventilation, Genetics (clinical), Genetics, Molecular Medicine, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1137767/full; urn:issn:1664-8021

URL الوصول: https://orbi.uliege.be/handle/2268/302916

المؤلفون: Rostomyan, Liliya, Daly, Adrian, Yuan, Bo, Fina, F, CABERG, Jean-Hubert, Trivellin, G, de Herder, W, Naves, L, Metzger, D, Cuny, T, Rabl, W, Shah, N, Jaffrain-Rea, ML, Zatelli, MC, Faucz, FR, CASTERMANS, Emilie, Nanni-Metellus, I, Lodish, M, Muhammad, A, Palmeira, Leonor, Potorac, Iulia, Mantovani, G, Neggers, S, Klein, M, Barlier, A, Liu, P, Ouafik, L, Bours, Vincent, Lupski, J, Stratakis, C, Beckers, Albert

المصدر: Abstract book : Symposium "Perspectives in Endocrinology" (2017-01); Symposium "Perspectives in Endocrinology", 21 janvier 2017

مصطلحات موضوعية: Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

URL الوصول: https://orbi.uliege.be/handle/2268/207445

المؤلفون: Lumaka Zola, Aimé, Fasquelle, Corinne, Debray, François-Guillaume, Alkan, Serpil, Jacquinet, Adeline, Harvengt, Julie, Boemer, François, Mulder, André, VAESSEN, Sandrine, Viellevoye, Renaud, Palmeira, Leonor, CHARLOTEAUX, Benoit, Brysse, Anne, BULK, Saskia, Rigo, Vincent, Bours, Vincent

المصدر: International Journal of Molecular Sciences, 24 (4), 4003 (2023-02-16)

مصطلحات موضوعية: Base Space Sequence Hub, Dragen, NICU, NICU-Seq, critically ill newborn, rWGS, rapid whole genome sequencing, Inorganic Chemistry, Organic Chemistry, Physical and Theoretical Chemistry, Computer Science Applications, Spectroscopy, Molecular Biology, General Medicine, Catalysis, Human health sciences, Sciences de la santé humaine

Relation: https://www.mdpi.com/1422-0067/24/4/4003/pdf; urn:issn:1661-6596; urn:issn:1422-0067; https://orbi.uliege.be/handle/2268/301232; info:hdl:2268/301232; info:pmid:36835410

الاتاحة: https://orbi.uliege.be/handle/2268/301232
https://orbi.uliege.be/bitstream/2268/301232/1/ijms-24-04003-2.pdf
https://doi.org/10.3390/ijms24044003

المؤلفون: Sonet, Inès, Palmeira, Leonor, CHARLOTEAUX, Benoit, CABERG, Jean-Hubert, Dideberg, Vinciane, Bours, Vincent

المصدر: 21th BeSHG meeting, Bruxelles, Belgium [BE], 17/09/2021

مصطلحات موضوعية: Human health sciences, Laboratory medicine & medical technology, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale

URL الوصول: https://orbi.uliege.be/handle/2268/300124

المؤلفون: Palmeira, Leonor

مصطلحات موضوعية: [SDV:OT] Life Sciences/Other, [SDV] Life Sciences, [SDV:EE] Life Sciences/Ecology, environment, dinucléotides, effet des CpG, modèles d'évolution, modèles de Markov, reconstruction phylogénétique, analyse de séquence, lumière UV

الاتاحة: http://tel.archives-ouvertes.fr/tel-00178453
http://tel.archives-ouvertes.fr/docs/00/17/84/53/PDF/structure.pdf
http://tel.archives-ouvertes.fr/docs/00/17/84/53/ANNEX/squelettepres.pdf

المؤلفون: Palmeira, Leonor Lobry, Jean R.

الاتاحة: http://tel.archives-ouvertes.fr/docs/00/17/84/53/PDF/structure.pdf

المؤلفون: Hakizimana, Olivier, Hitayezu, Janvier, Uyisenga, Jeanne P., Onohuean, Hope, Palmeira, Leonor, Bours, Vincent, Alagbonsi, Abdullateef Isiaka, Uwineza, Annette

المصدر: Frontiers in Genetics; 2024, p1-18, 18p

مصطلحات موضوعية: SOUTH Africans, GENOME-wide association studies, AUTISM spectrum disorders, ONLINE databases, CHROMOSOME abnormalities

المؤلفون: FERNANDEZ CARAZO, Rafael, Koopmansch, Benjamin, CHARLOTEAUX, Benoit, Palmeira, Leonor, Lambert, Frédéric

المصدر: EHA2021 Virtual Congress, 9-17/2021

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

URL الوصول: https://orbi.uliege.be/handle/2268/259401

المؤلفون: Daly, Adrian, Yuan, Bo, Fina, Frederic, Caberg, Jean-Hubert, Trivellin, Giampaolo, Rostomyan, Liliya, de Herder, Wouter, Naves, Luciana, Metzger, Daniel, Cuny, Thomas, Rabl, Wolfgang, Shah, Nalini, Jaffrain-Rea, Marie-Lise, Zatelli, Maria, Faucz, Fabio, Castermans, Emilie, Nanni-Metellus, Isabelle, Lodish, Maya, Muhammad, Ammar, Palmeira, Leonor, Potorac, Iulia, Mantovani, Giovanna, Neggers, Sebastian, Klein, Marc, Barlier, Anne, Liu, Pengfei, Ouafik, LHoucine, Bours, Vincent, Lupski, James, Stratakis, Constantine, Beckers, Albert

المصدر: Endocrine-Related Cancer. 23(4)

مصطلحات موضوعية: X-LAG syndrome, gigantism, molecular genetics, mosaicism, pituitary, Adult, Female, Genetic Diseases, X-Linked, Gigantism, Humans, Male, Middle Aged, Mosaicism, Polymerase Chain Reaction, Syndrome, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/95f6c197
https://escholarship.org/content/qt95f6c197/qt95f6c197.pdf

المؤلفون: Freire, Maria Valeria, Martin, Marie, Thissen, Romain, van Marcke, Cédric, Segers, Karin, Sépulchre, Edith, Leroi, Natacha, Lété, Céline, Fasquelle, Corinne, Radermacher, Jean, Gokburun, Yeter, Collignon, Joelle, Sacré, Anne, Josse, Claire, Palmeira, Leonor, Bours, Vincent

المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre du cancer, UCL - (SLuc) Unité d'oncologie médicale

المصدر: Frontiers in oncology, Vol. 12, no. 1, p. 835581 [1-6] (2022)

مصطلحات موضوعية: BRCA1, case report, colorectal (colon) cancer, exome sequencing (ES), homologous recombination deficiency (HRD)

Relation: boreal:263461; http://hdl.handle.net/2078.1/263461; info:pmid/35280729; urn:EISSN:2234-943X

الاتاحة: http://hdl.handle.net/2078.1/263461
https://doi.org/10.3389/fonc.2022.835581

المؤلفون: Franke, Martin, Daly, Adrian, Palmeira, Leonor, Tirosh, Amit, Stigliano, Antonio, Trifan, Eszter, Faucz, Fabio R., Abboud, Dayana, PETROSSIANS, Patrick, Tena, Juan J., Vitali, Eleonora, Lania, Andrea G., Gómez-Skarmeta, José L., BECKERS, Albert, Stratakis, Constantine A., Trivellin, Giampaolo

المصدر: American Journal of Human Genetics (2022-02-23)

مصطلحات موضوعية: Genetics (clinical), Genetics, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

Relation: https://api.elsevier.com/content/article/PII:S0002929722000532?httpAccept=text/xml; urn:issn:0002-9297; urn:issn:1537-6605; https://orbi.uliege.be/handle/2268/288378; info:hdl:2268/288378; https://orbi.uliege.be/bitstream/2268/288378/1/mmc4.pdf

الاتاحة: https://orbi.uliege.be/handle/2268/288378
https://orbi.uliege.be/bitstream/2268/288378/1/mmc4.pdf
https://doi.org/10.1016/j.ajhg.2022.02.002

المؤلفون: Thissen, Romain, ARTESI, Maria, Durkin, Keith, JOSSE, Claire, PALMEIRA, Léonor, BOURS, Vincent

المصدر: GIGA cancer day, Liège, Belgium [BE], 24 décembre 2021

مصطلحات موضوعية: HRD, Homologous recombination deficiency, Breast cancer, Ovarian cancer, Nanopore sequencing, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://orbi.uliege.be/handle/2268/290049; info:hdl:2268/290049; https://orbi.uliege.be/bitstream/2268/290049/1/_GIGA_Cancer.pdf

الاتاحة: https://orbi.uliege.be/handle/2268/290049
https://orbi.uliege.be/bitstream/2268/290049/1/_GIGA_Cancer.pdf