نتائج البحث - Matthieu P. Robert

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  1. 1
    Thromboembolism and Congenital Malformations

    Thromboembolism and Congenital Malformations حسب Cameron F. Parsa, Matthieu P. Robert

    منشور في 2012
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    Artigo
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  2. 2
    Recent developments in the management of congenital cataract

    Recent developments in the management of congenital cataract حسب Dominique Brémond‐Gignac, Alejandra Daruich, Matthieu P. Robert, Sophie Valleix

    منشور في 2020
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  3. 3
    Vertical and horizontal smooth pursuit eye movements in children with developmental coordination disorder

    Vertical and horizontal smooth pursuit eye movements in children with developmental coordination disorder حسب Matthieu P. Robert, I. Ingster-Moati, Éliane Albuisson, D. Cabrol, Bernard Golse, Laurence Vaivre‐Douret

    منشور في 2014
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  4. 4
    Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti

    Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti حسب Christine Bodemer, Andrea Diociaiuti, S. Hadj‐Rabia, Matthieu P. Robert, I. Desguerre, M.C. Manière, Muriel De La Dure‐Molla, Paola De Liso, Mauro Federici, Angela Galeotti, Francesca Fusco, Sylvie Fraïtag, Caroline Demily, C. Taïeb, Matilde Valeria Ursini, May El Hachem, Julie Steffann

    منشور في 2020
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  5. 5
    Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

    Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches حسب Alejandra Daruich, Melinda K. Duncan, Matthieu P. Robert, Neil Lagali, Elena V. Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi, Nathalie de Vergnes, Michel Polak, Frédéric Chiambaretta, Ken K. Nischal, Francine Béhar‐Cohen, Sophie Valleix, Dominique Brémond‐Gignac

    منشور في 2022
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  6. 6
    Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy

    Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy حسب Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, Fanny Coulpier, Stamatia Gioftsidi, Bernadette Drayton‐Libotte, Cyrielle Hou, François‐Jérôme Authier, France Piétri‐Rouxel, Matthieu P. Robert, Dominique Brémond‐Gignac, Claudio Bruno, Chiara Fiorillo, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frédéric Relaix

    منشور في 2023
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  7. 7
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment حسب Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    منشور في 2023
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  8. 8
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment حسب Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    منشور في 2023
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  9. 9
    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature حسب Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean‐Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P. Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot‐Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R. Frank Kooy, Miroslava Hančárová, Markéta Havlovicová, Darina Prchalová, Zdeněk Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S. Klein Wassink‐Ruiter, Laurence Faivre

    منشور في 2016
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