Hasil Pencarian - Jamal Ghoumid

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  1. 1
    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome oleh Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller

    Diterbitkan 2019-01-01
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  2. 2
    Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8

    Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8 oleh Diane Doummar, Marco Treven, Leila Qebibo, David Devos, Jamal Ghoumid, Claudia Ravelli, Gottfried Kranz, Martin Krenn, Diane Demailly, Laura Cif, Jean‐Baptiste Davion, Fritz Zimprich, Lydie Burglen, Michael Zech

    Diterbitkan 2021-10-01
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  3. 3
    A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

    A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency oleh Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens

    Diterbitkan 2022-06-01
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  4. 4
    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

    Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb oleh Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre

    Diterbitkan 2024-01-01
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  5. 5
    O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome

    O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome oleh 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

    Diterbitkan 2023-01-01
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  6. 6
    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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