Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Nathalie Roux"'
Autor:
Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Mélanie Parisot, Meriem Garfa-Traoré, Amale Ichkou, Nadia Elkhartoufi, Christine Bole, Patrick Nitschke, Jeanne Amiel, Jelena Martinovic, Férechté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinica
Externí odkaz:
https://doaj.org/article/65035ff74ed64b7aa3c473b2f4822c5d
Publikováno v:
PLoS ONE, Vol 17, Iss 10 (2022)
Background In early terminations of pregnancy for fetal anomaly (TOPFA) without identified cytogenetic abnormality, a fetal autopsy is recommended for diagnostic purposes, to guide genetic counseling. Medical induction, which allows analysis of a com
Externí odkaz:
https://doaj.org/article/17f592a69bd14cb2a7942a15dc1bf7f5
Autor:
Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations. However, when extracardiac symptoms are atypical or abse
Externí odkaz:
https://doaj.org/article/1eea676b9315439d98a82f282c9786d4
Autor:
Faris Ghalib Bakri, Michelle Mollin, Sylvain Beaumel, Bénédicte Vigne, Nathalie Roux-Buisson, Adel Mohammed Al-Wahadneh, Raed Mohammed Alzyoud, Wail Ahmad Hayajneh, Ammar Khaled Daoud, Mohammed Elian Abu Shukair, Mansour Fuad Karadshe, Mahmoud Mohammad Sarhan, Jamal Ahmad Wadi Al-Ramahi, Julien Fauré, John Rendu, Marie Jose Stasia
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused by mutations in one of the six genes (CYBA, CYBB, NCF1, NCF2, NCF4, and CYBC1/EROS) encoding the superoxide-producing nicotinamide adenine dinucleotide phosphate (N
Externí odkaz:
https://doaj.org/article/5eee0723fe834d4c995cb08cef26deb2
Autor:
Sandra Palméro, Nathalie Roux
Publikováno v:
L’Année du Maghreb, Vol 6, Pp 443-487 (2010)
Over 10 years after Barcelona, the effects of economic openness in Mediterranean countries are not credible in terms of economic growth and employment dynamics. The purpose of our article is to identify the sectors likely to create employment and wea
Externí odkaz:
https://doaj.org/article/284add83d5ce486bb03272f83f23087c
Autor:
Sandra Palméro, Nathalie Roux
Publikováno v:
L’Année du Maghreb, Vol 1 (2006)
Externí odkaz:
https://doaj.org/article/b15554c29f384c63a63107142757edc9
Autor:
Ader, Flavie, Jedraszak, Guillaume, Janin, Alexandre, Billon, Clarisse, Buisson, Nathalie Roux, Bloch, Adrien, Bensalah, Meriem, De Sandre‐Giovannoli, Anachiara, Goudal, Adeline, Marsili, Luisa, Cazeneuve, Cécile, Charron, Philippe, Millat, Gilles, Richard, Pascale
Publikováno v:
Clinical Genetics; Jun2024, Vol. 105 Issue 6, p676-682, 7p
Akademický článek
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Publikováno v:
Anesthésie & Réanimation. 9:173-183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2aaec179c9fb984b8f61a09279752983
https://doi.org/10.1016/j.anrea.2023.01.009
https://doi.org/10.1016/j.anrea.2023.01.009
Autor:
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attié‐Bitach
Publikováno v:
Birth Defects Research. 115:563-571
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84f19d14641e3328bdbd1a048329f155
https://doi.org/10.1002/bdr2.2141
https://doi.org/10.1002/bdr2.2141