Ngā hua rapu - Bahi-Buisson, Nadia

Tables Rondes du Congrès 2021 de la SFP mā Gras-Le Guen, Christèle, Basmaci, Romain, Bahi-Buisson, Nadia

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Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome mā Fichou, Yann, Bahi-Buisson, Nadia, Nectoux, Juliette, Chelly, Jamel, Héron, Delphine, Cuisset, Laurence, Bienvenu, Thierry

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The phenotype associated with a large deletion on MECP2 mā Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen

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Linking MECP2 and pain sensitivity: the example of Rett syndrome mā Downs, Jenny, Géranton, Sandrine M., Bebbington, Ami, Jacoby, Peter, Bahi-Buisson, Nadia, Ravine, David, Leonard, Helen

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Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated mā Zhang, Kai, Foster, Helen E., Rondelet, Arnaud, Lacey, Samuel E., Bahi-Buisson, Nadia, Bird, Alexander W., Carter, Andrew P.

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Mobility profile in Rett syndrome as determined by video analysis mā DOWNS, Jennepher Anne, BEBBINGTON, Ami, JACOBY, Peter, MSALL, Michael, MCILROY, Orla, FYFE, Sue, BAHI-BUISSON, Nadia, KAUFMANN, Walter E., LEONARD, Helen

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Next generation phenotyping using narrative reports in a rare disease clinical data warehouse mā Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien

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Misleading behavioural phenotype with adenylosuccinate lyase deficiency mā Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson, Nadia

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Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HT... mā Mazzuca, Michel, Maubert, Marie-Anne, Damaj, Léna, Clot, Fabienne, Cadoudal, Marylène, Dubourg, Christele, Odent, Sylvie, Benoit, Jean François, Bahi-Buisson, Nadia, Christa, Laurence, de Lonlay, Pascale

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Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility mā Lambert, Anne-Sophie, Rothenbuhler, Anya, Charles, Perrine, Brailly-Tabard, Sylvie, Trabado, Séverine, Célestin, Elisabeth, Durand, Emmanuel, Fontaine, Isabelle, Miladi, Lotfi, Wicart, Philippe, Bahi-Buisson, Nadia, Linglart, Agnès

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Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly mā Carpentieri, Jacopo A., Di Cicco, Amandine, Lampic, Marusa, Andreau, David, Del Maestro, Laurence, El Marjou, Fatima, Coquand, Laure, Bahi-Buisson, Nadia, Brault, Jean-Baptiste, Baffet, Alexandre D.

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria mā Poirier, Karine, Saillour, Yoann, Fourniol, Franck, Francis, Fiona, Souville, Isabelle, Valence, Stéphanie, Desguerre, Isabelle, Marie Lepage, Jean, Boddaert, Nathalie, Line Jacquemont, Marine, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia

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Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research mā Sapir, Tamar, Barakat, Tahsin Stefan, Paredes, Mercedes F., Lerman-Sagie, Tally, Aronica, Eleonora, Klonowski, Wlodzimierz, Nguyen, Laurent, Ben Zeev, Bruria, Bahi-Buisson, Nadia, Leventer, Richard, Rachmian, Noa, Reiner, Orly

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InterRett, a model for international data collection in a rare genetic disorder mā Louise, Sandra, Fyfe, Sue, Bebbington, Ami, Bahi-Buisson, Nadia, Anderson, Alison, Pineda, Mercé, Percy, Alan, Ben Zeev, Bruria, Wu, Xi Ru, Bao, Xinhua, Mac Leod, Patrick, Armstrong, Judith, Leonard, Helen

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NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications mā Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence

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MRI Findings in 77 Children with Non-Syndromic Autistic Disorder mā Boddaert, Nathalie, Zilbovicius, Mônica, Philipe, Anne, Robel, Laurence, Bourgeois, Marie, Barthélemy, Catherine, Seidenwurm, David, Meresse, Isabelle, Laurier, Laurence, Desguerre, Isabelle, Bahi-Buisson, Nadia, Brunelle, Francis, Munnich, Arnold, Samson, Yves, Mouren, Marie-Christine, Chabane, Nadia

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Rett Syndrome: Revised Diagnostic Criteria and Nomenclature mā Neul, Jeffrey L., Kaufmann, Walter E., Glaze, Daniel G., Christodoulou, John, Clarke, Angus J., Bahi-Buisson, Nadia, Leonard, Helen, Bailey, Mark E. S., Schanen, N. Carolyn, Zappella, Michele, Renieri, Alessandra, Huppke, Peter, Percy, Alan K.

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EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia mā Oegema, Renske, McGillivray, George, Leventer, Richard, Le Moing, Anne‐Gaëlle, Bahi‐Buisson, Nadia, Barnicoat, Angela, Mandelstam, Simone, Francis, David, Francis, Fiona, Mancini, Grazia M. S., Savelberg, Sanne, van Haaften, Gijs, Mankad, Kshitij, Lequin, Maarten H.

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population mā Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent

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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development mā Romero, Delfina M., Poirier, Karine, Belvindrah, Richard, Moutkine, Imane, Houllier, Anne, LeMoing, Anne-Gaëlle, Petit, Florence, Boland, Anne, Collins, Stephan C., Soiza-Reilly, Mariano, Yalcin, Binnaz, Chelly, Jamel, Deleuze, Jean-François, Bahi-Buisson, Nadia, Francis, Fiona

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