Hasil Pencarian - Salima El Chehadeh

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  1. 1
    An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.

    An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation. oleh Anne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, Nathalie Marle, Caroline Truntzer, Thierry Rousseau, Clémence Ragon, Muriel Payet, Christelle Thauvin-Robinet, Julien Thevenon, Salima El Chehadeh, Fréderic Huet, Paul Sagot, Francine Mugneret, Patrick Callier

    Diterbitkan 2013-01-01
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  2. 2
    The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

    The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders oleh Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet

    Diterbitkan 2021-12-01
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  3. 3
    SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

    SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice oleh Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um

    Diterbitkan 2022-07-01
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  4. 4
    Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

    Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders oleh Estelle Colin, Estelle Colin, Yannis Duffourd, Martin Chevarin, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Hana Safraou, Thomas Besnard, Thomas Besnard, Alice Goldenberg, Alice Goldenberg, Benjamin Cogné, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Julian Delanne, Arthur Sorlin, Arthur Sorlin, Sébastien Moutton, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Martine Doco-Fenzy, Kevin Uguen, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Paul Kuentz, Anne Boland, Robert Olaso, Robert Olaso, Jean-François Deleuze, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Patrick Callier, Christophe Philippe, Christophe Philippe, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Antonio Vitobello, Antonio Vitobello

    Diterbitkan 2023-02-01
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  5. 5
    The different clinical facets of SYN1-related neurodevelopmental disorders

    The different clinical facets of SYN1-related neurodevelopmental disorders oleh Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Laurent Villard, Cyril Goizet, Cyril Goizet, Cyril Goizet, Cécile Courdier, Cécile Courdier, Cécile Courdier, Allan Bayat, Allan Bayat, Allan Bayat, Alessandra Rossi, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Daphné Lehalle, Marjolaine Willems, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Jamal Ghoumid, Roseline Caumes, Roseline Caumes, Thomas Smol, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Frank J. Kaiser, Laure Mazzola, Laure Mazzola, Philippe Convers, Philippe Convers, Laurine Perrin, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Gert Wiegand, Gert Wiegand, Andrea Accogli, Andrea Accogli, Francesco Brancati, Francesco Brancati, Fabio Benfenati, Fabio Benfenati, Nicolas Chatron, Nicolas Chatron, David Lewis-Smith, David Lewis-Smith, Rhys H. Thomas, Rhys H. Thomas, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Gaetan Lesca, Gaetan Lesca, Christel Depienne

    Diterbitkan 2022-12-01
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  6. 6
    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification oleh Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Agnes Bloch-Zupan, Tristan Rey, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Magali Hernandez, Mathilde Huckert, Bertand Isidor, Clara Joseph-Beaudin, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Serena Lopez, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Emmanuelle Noirrit, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Corinne Tardieu, Béatrice Thivichon-Prince, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

    Diterbitkan 2023-05-01
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