Hasil Pencarian - Marjolaine Willems

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  1. 1
    Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

    Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract oleh Flavien Rouxel, Julien Fauré, Jean-Michel Faure, Françoise Deschamps, Gilles Burlet, Anaig Flandrin, Alain Couture, Olivier Prodhomme, John Rendu, Marjolaine Willems

    Diterbitkan 2022-12-01
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  2. 2
    Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT)

    Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT) oleh Sophie Brouillet, Sandie Mereuze, Noémie Ranisavljevic, Claire Chauveau, Samir Hamamah, Julie Cattin, Camille Verebi, Christelle Cabrol, Aliya Ishmukhametova, Anne Girardet, Tal Anahory, Marjolaine Willems

    Diterbitkan 2022-09-01
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  3. 3
    When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

    When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report oleh Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems

    Diterbitkan 2021-09-01
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  4. 4
    The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>

    The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i> oleh Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux

    Diterbitkan 2021-12-01
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  5. 5
    Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

    Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease. oleh Wladimir Mauhin, Olivier Benveniste, Damien Amelin, Clémence Montagner, Foudil Lamari, Catherine Caillaud, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D'Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Didier Lacombe, Hélène Maillard, Olivier Lidove

    Diterbitkan 2020-01-01
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  6. 6
    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome oleh Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attie-Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier-Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, Eva Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kevin Yauy, David Geneviève, Roman H. Khonsari, Nicolas Garcelon

    Diterbitkan 2024-01-01
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  7. 7
    10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

    10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France oleh Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre

    Diterbitkan 2021-08-01
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  8. 8
    Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

    Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY oleh Wladimir Mauhin, Olivier Lidove, Damien Amelin, Foudil Lamari, Catherine Caillaud, Federico Mingozzi, Gaëlle Dzangué-Tchoupou, Louiza Arouche-Delaperche, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Pauline D’Halluin, Esther Noel, Thierry Zenone, Marie Matignon, François Maillot, Kim-Heang Ly, Gérard Besson, Marjolaine Willems, Fabien Labombarda, Agathe Masseau, Christian Lavigne, Roseline Froissart, Didier Lacombe, Jean Marc Ziza, Eric Hachulla, Olivier Benveniste

    Diterbitkan 2018-07-01
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  9. 9
    Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

    Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders oleh Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

    Diterbitkan 2023-08-01
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  10. 10
    Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

    Intrafamilial variability in SLC6A1-related neurodevelopmental disorders oleh Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

    Diterbitkan 2023-07-01
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  11. 11
    A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

    A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder oleh Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer

    Diterbitkan 2021-11-01
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  12. 12
    Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

    Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism oleh Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner

    Diterbitkan 2021-07-01
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  13. 13
    AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

    AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes oleh Quentin Hennocq, Quentin Hennocq, Quentin Hennocq, Thomas Bongibault, Thomas Bongibault, Sandrine Marlin, Sandrine Marlin, Jeanne Amiel, Jeanne Amiel, Tania Attie-Bitach, Tania Attie-Bitach, Geneviève Baujat, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Stanislas Lyonnet, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Véronique Pingault, Thantrira Porntaveetus, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari, Roman H. Khonsari, Roman H. Khonsari

    Diterbitkan 2023-08-01
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  14. 14
    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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  15. 15
    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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  16. 16
    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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  17. 17
    Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

    Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis oleh Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Antonio Vitobello, Arthur Sorlin, Arthur Sorlin, Hana Safraou, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Laurence Faivre, Christophe Philippe, Christophe Philippe, Yannis Duffourd, Yannis Duffourd, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet

    Diterbitkan 2023-04-01
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