Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sandrine Vaessen"'
Autor:
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 4003 (2023)
Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium. Twent
Externí odkaz:
https://doaj.org/article/8a0dae43feb44b0b9eb680a62995f7d0
Publikováno v:
Neuropediatrics. 49:180-184
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256cca2fe3911055668df0a5b438cd7b
https://doi.org/10.1055/s-0037-1620239
https://doi.org/10.1055/s-0037-1620239
Autor:
Tiphaine Vigouroux, Adrianne Milet, Joe Karam, Sandrine Vaessen, Jean-Paul Misson, Christophe Barrea
Publikováno v:
Neuropediatrics. 47:268-272
Aim Horner syndrome corresponds to the clinical triad of miosis, ptosis, and facial anhidrosis. These symptoms are related to injury of the oculosympathetic chain. In children, Horner syndrome is classified as congenital or acquired. While the diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83de2fb8de087f4e91abe3c58a72ed1
https://doi.org/10.1055/s-0036-1584085
https://doi.org/10.1055/s-0036-1584085
Publikováno v:
Archives de Pédiatrie. 24:637-639
Resume Nous presentons le cas d’une dystonie de type 12, appelee aussi syndrome de dystonie-parkinsonisme a debut rapide, survenue chez un jeune garcon de 12 ans. La dystonie de type 12 est un syndrome genetique caracterise par une mutation pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::173c3a316c40a0035daba730c39888a2
https://doi.org/10.1016/j.arcped.2017.04.010
https://doi.org/10.1016/j.arcped.2017.04.010
Autor:
Lumaka, Aimé1,2 (AUTHOR) aime.lumaka@chuliege.be, Fasquelle, Corinne2 (AUTHOR), Debray, Francois-Guillaume2 (AUTHOR), Alkan, Serpil2,3 (AUTHOR), Jacquinet, Adeline2 (AUTHOR), Harvengt, Julie2 (AUTHOR), Boemer, François2 (AUTHOR), Mulder, André4 (AUTHOR), Vaessen, Sandrine3 (AUTHOR), Viellevoye, Renaud5 (AUTHOR), Palmeira, Leonor2 (AUTHOR), Charloteaux, Benoit2 (AUTHOR), Brysse, Anne2 (AUTHOR), Bulk, Saskia2 (AUTHOR), Rigo, Vincent5 (AUTHOR), Bours, Vincent1,2 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Feb2023, Vol. 24 Issue 4, p4003. 16p.
Autor:
Ruaud, Lyse, Drunat, Séverine, Elmaleh‐Bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, El Ghouzzi, Vincent, Auvin, Stéphane, Verloes, Alain, Passemard, Sandrine, Van Maldergem, Lionel, Engel, Camille, Altuzarra, Cecilia, Lamidieu, Charlie, Bayat, Allan, Moortgat, Stéphanie, Pelc, Karine, Maystadt, Isabelle, Abramowicz, Marc, Pirson, Isabelle, Duerinckx, Sarah
Publikováno v:
Developmental Medicine & Child Neurology; Apr2022, Vol. 64 Issue 4, p509-517, 9p
Publikováno v:
Gene Therapy Weekly; 3/6/2023, p1869-1869, 1p
Publikováno v:
Multiple Sclerosis Journal; 2015 Supplement, p654-779, 126p