Hasil Pencarian - Nadia Bahi-Buisson
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1
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size oleh Sarah Farcy, Hassina Hachour, Nadia Bahi-Buisson, Sandrine Passemard
Diterbitkan 2023-07-01
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2
Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research oleh Tamar Sapir, Tahsin Stefan Barakat, Mercedes F. Paredes, Tally Lerman-Sagie, Eleonora Aronica, Eleonora Aronica, Wlodzimierz Klonowski, Laurent Nguyen, Bruria Ben Zeev, Nadia Bahi-Buisson, Nadia Bahi-Buisson, Richard Leventer, Richard Leventer, Noa Rachmian, Orly Reiner
Diterbitkan 2019-09-01
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3
Next generation phenotyping using narrative reports in a rare disease clinical data warehouse oleh Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Nadia Bahi-Buisson, Jeanne Amiel, Capucine Picard, Nizar Mahlaoui, Vincent Benoit, Anita Burgun, Bastien Rance
Diterbitkan 2018-05-01
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4
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture oleh Delfina M. Romero, Donia Zaidi, Carmen Cifuentes-Diaz, Camille Maillard, Gael Grannec, Mohammed Selloum, Marie-Christine Birling, Nadia Bahi-Buisson, Fiona Francis
Diterbitkan 2023-05-01
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5
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly oleh Jacopo A. Carpentieri, Amandine Di Cicco, Marusa Lampic, David Andreau, Laurence Del Maestro, Fatima El Marjou, Laure Coquand, Nadia Bahi-Buisson, Jean-Baptiste Brault, Alexandre D. Baffet
Diterbitkan 2022-01-01
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6
Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility. oleh Anne-Sophie Lambert, Anya Rothenbuhler, Perrine Charles, Sylvie Brailly-Tabard, Séverine Trabado, Elisabeth Célestin, Emmanuel Durand, Isabelle Fontaine, Lotfi Miladi, Philippe Wicart, Nadia Bahi-Buisson, Agnès Linglart
Diterbitkan 2017-01-01
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7
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry oleh Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
Diterbitkan 2023-06-01
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8
Activation of the PI3K/AKT/mTOR Pathway in Cajal–Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures oleh Nasim Ramezanidoraki, Driss El Ouardi, Margaux Le, Stéphanie Moriceau, Mahboubeh Ahmadi, Elena Dossi, Danae Rolland, Philippe Bun, Gwenaëlle Le Pen, Guillaume Canaud, Nadia Bahi-Buisson, Nathalie Rouach, Rebecca Piskorowski, Alessandra Pierani, Pierre Billuart
Diterbitkan 2023-03-01
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9
MRI findings in 77 children with non-syndromic autistic disorder. oleh Nathalie Boddaert, Mônica Zilbovicius, Anne Philipe, Laurence Robel, Marie Bourgeois, Catherine Barthélemy, David Seidenwurm, Isabelle Meresse, Laurence Laurier, Isabelle Desguerre, Nadia Bahi-Buisson, Francis Brunelle, Arnold Munnich, Yves Samson, Marie-Christine Mouren, Nadia Chabane
Diterbitkan 2009-01-01
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10
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development oleh Delfina M. Romero, Karine Poirier, Richard Belvindrah, Imane Moutkine, Anne Houllier, Anne-Gaëlle LeMoing, Florence Petit, Anne Boland, Stephan C. Collins, Mariano Soiza-Reilly, Binnaz Yalcin, Jamel Chelly, Jean-François Deleuze, Nadia Bahi-Buisson, Fiona Francis
Diterbitkan 2022-05-01
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11
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder oleh Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Sameer Zuberi, Tim A. Benke
Diterbitkan 2022-06-01
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12
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. oleh Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern
Diterbitkan 2009-02-01
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13
Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in Resembles Dravet Syndrome but Mainly Affects Females. oleh Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern
Diterbitkan 2009-04-01
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14
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities oleh Martin Breuss, Julian Ik-Tsen Heng, Karine Poirier, Guoling Tian, Xavier Hubert Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi-Buisson, Marie-Laure Moutard, Sandrine Passemard, Alain Verloes, Pierre Gressens, Yunli Xie, Kathryn J.H. Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas Justin Cowan, David Anthony Keays
Diterbitkan 2012-12-01
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15
Analysis of the Phenotypes in the Rett Networked Database oleh Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri
Diterbitkan 2019-01-01
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16
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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