Hasil Pencarian - Pierre Boisseau

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  1. 1
    MYH9‐related disease: Assessment of the pathogenicity of a new mutation

    MYH9‐related disease: Assessment of the pathogenicity of a new mutation oleh Babuty Antoine, Pierre Boisseau, Nicolas Drillaud, Marion Eveillard, Marc Fouassier

    Diterbitkan 2023-08-01
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  2. 2
    An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12

    An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12 oleh Pierre Boisseau, Mathilde Giraud, Catherine Ternisien, Agnès Veyradier, Edith Fressinaud, Armelle Lefrancois, Stéphane Bezieau, Marc Fouassier

    Diterbitkan 2011-10-01
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  3. 3
    Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease

    Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease oleh Mathilde Penel-Page, Sandrine Meunier, Mathilde Fretigny, Sandra Le Quellec, Pierre Boisseau, Christine Vinciguerra, Catherine Ternisien, Lucia Rugeri

    Diterbitkan 2017-11-01
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  4. 4
    A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient

    A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient oleh Marie Daniela Dubois, Serge Pierre-Louis, Johalène Rabout, Cécile V. Denis, Olivier Christophe, Sophie Susen, Jenny Goudemand, Pierre Boisseau, Rémi Neviere, Olivier Pierre-Louis

    Diterbitkan 2020-10-01
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  5. 5
    Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

    Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1 oleh Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Geneviève Gourdon, Stéphanie Tomé

    Diterbitkan 2021-03-01
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  6. 6
    Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization

    Identification of von Willebrand factor D4 domain mutations in patients of Afro‐Caribbean descent: In vitro characterization oleh Marie‐Daniéla Dubois, Ivan Peyron, Olivier‐Nicolas Pierre‐Louis, Serge Pierre‐Louis, Johalène Rabout, Pierre Boisseau, Annika deJong, Sophie Susen, Jenny Goudemand, Rémi Neviere, Pascal Fuseau, Olivier D. Christophe, Peter J. Lenting, Cécile V. Denis, Caterina Casari

    Diterbitkan 2022-05-01
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  7. 7
    Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence

    Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence oleh Annabelle Dupont, Christelle Soukaseum, Mathilde Cheptou, Frédéric Adam, Thomas Nipoti, Marc-Damien Lourenco-Rodrigues, Paulette Legendre, Valérie Proulle, Antoine Rauch, Charlotte Kawecki, Marijke Bryckaert, Jean-Philippe Rosa, Camille Paris, Catherine Ternisien, Pierre Boisseau, Jenny Goudemand, Delphine Borgel, Dominique Lasne, Pascal Maurice, Peter J. Lenting, Cécile V. Denis, Sophie Susen, Alexandre Kauskot

    Diterbitkan 2019-12-01
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