Hasil Pencarian - Celine Banal
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Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation oleh Laura Barnabei, Mathieu Castela, Celine Banal, Nathalie Lefort, Frédéric Rieux-Laucat
Diterbitkan 2021-01-01
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Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells oleh Mikaël Boullé, Alix Boucharlat, Ambre Leleu, Céline Banal, Aurélie Coussement, Marcel Hollenstein, Frank Yates, Nathalie Lefort, Fabrice Agou
Diterbitkan 2024-04-01
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Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A oleh Celine Banal, Eddy Quelennec, Cécile Talbotec, Anis Khiat, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Nathalie Lefort, Corinne Lebreton
Diterbitkan 2023-04-01
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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment oleh Celine Banal, Eddy Quelennec, William Bertani-Torres, Nadjet Gacem, Jeanne Amiel, Sandrine Marlin, Florence Petit, Veronique Pingault, Nathalie Lefort, Nadege Bondurand
Diterbitkan 2020-10-01
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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia oleh Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel
Diterbitkan 2020-11-01
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UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking oleh Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato
Diterbitkan 2022-05-01
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