Zobrazuji výsledky 1 - 8 z 8 pro vyhledávání 'Jean‐Louis Mandel', doba hledání: 0,04 s.
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DYRK1A roles in human neural progenitors Autor Jeremie Courraud, Jeremie Courraud, Jeremie Courraud, Jeremie Courraud, Angélique Quartier, Angélique Quartier, Angélique Quartier, Angélique Quartier, Nathalie Drouot, Nathalie Drouot, Nathalie Drouot, Nathalie Drouot, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Irene Zapata-Bodalo, Johan Gilet, Johan Gilet, Johan Gilet, Johan Gilet, Alexandra Benchoua, Jean-Louis Mandel, Jean-Louis Mandel, Jean-Louis Mandel, Jean-Louis Mandel, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton, Amélie Piton
Vydáno 2025-03-01
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P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome Autor Pauline Burger, Valentin Ruault, David Genevieve, Elana Forbes, Lottie Morison, Angela Morgan, Jean-Louis Mandel
Vydáno 2024-01-01
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AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model Autor Karima Habbas, Oktay Cakil, Boglárka Zámbó, Ricardos Tabet, Fabrice Riet, Doulaye Dembele, Jean‐Louis Mandel, Michaël Hocquemiller, Ralph Laufer, Françoise Piguet, Hervé Moine
Vydáno 2022-04-01
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The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA Autor Romain Coutelle, Morgane Boedec, Karlijn Vermeulen, Joost Kummeling, David A. Koolen, Tjitske Kleefstra, Camille Fournier, Florent Colin, Axelle Strehle, David Geneviève, Pauline Burger, Jean-Louis Mandel
Vydáno 2022-08-01
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O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome Autor Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli, Nicole Collot, Ariane Bouman, Daphna Landau Prat, David Geneviève, Valentin Ruault, Roseline Caumes, Thomas Smol, Jamal Ghoumid, Joost Kummeling, Charlotte Ockeloen, Tjitske Kleefstra, Pierre Parrend, Amélie Piton, David Koolen, Jean-Louis Mandel
Vydáno 2023-01-01
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GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndr... Autor Florent Colin, Pauline Burger, Timothée Mazzucotelli, Axelle Strehle, Joost Kummeling, Nicole Collot, Elyette Broly, Angela T. Morgan, Kenneth A. Myers, Agnès Bloch-Zupan, Charlotte W. Ockeloen, Bert B.A. de Vries, Tjitske Kleefstra, Pierre Parrend, David A. Koolen, Jean-Louis Mandel
Vydáno 2023-01-01
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X Autor Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
Vydáno 2022-11-01
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