Resultados de procura - Bahi-Buisson, Nadia

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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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... por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

InterRett, a model for international data collection in a rare genetic disorder por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Rett Syndrome: Revised Diagnostic Criteria and Nomenclature por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso