Søgeresultater - Claudine Rieubland

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  1. 1
    Functional Consequences of a<i>SDHB</i>Gene Mutation in an Apparently Sporadic Pheochromocytoma

    Functional Consequences of a<i>SDHB</i>Gene Mutation in an Apparently Sporadic Pheochromocytoma af Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin, Claudine Rieubland, V. Kerlan, Pierre‐François Plouin, Agnès Rötig, Xavier Jeunemaı̂tre

    Udgivet 2002
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  2. 2
    Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

    Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach af Matthias Wilhelm, Stephan A. Bolliger, Christine Bärtsch, Siv Fokstuen, Christoph Gräni, Viktor Martos, Argelia Medeiros‐Domingo, Antonio Marco Maria Osculati, Claudine Rieubland, Sara Sabatasso, Ardan M. Saguner, Christian Schyma, Joëlle Tschui, D. Wyler, Zahurul A. Bhuiyan, Florence Fellmann, Katarzyna Michaud

    Udgivet 2015
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  3. 3
    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology

    Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology af Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard

    Udgivet 2022
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  4. 4
    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 af Lianne C. Krab, Íñigo Marcos‐Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne‐Marie Bisgaard, David Fitzpatrick, Sanna Gudmundsson, Sylvia Huisman, Tuğba Kalaycı, Saskia M. Maas, Francisco Martı́nez, Shane McKee, Leonie A. Menke, Paul A. Mulder, Oliver Murch, Michael Parker, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Jill A. Rosenfeld, Emanuela Scarano, Marwan Shinawi, Paulino Gómez‐Puertas, Zeynep Tümer, Raoul C. M. Hennekam

    Udgivet 2020
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  5. 5
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 af Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Udgivet 2021
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  6. 6
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants af Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    Udgivet 2017
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  7. 7
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome af Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Udgivet 2015
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