Hasil Pencarian - Julien Marcadier

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  1. 1
    Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy

    Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy oleh Steven C. Greenway, MSc, MD, FRCPC, Deborah Fruitman, MD, FRCPC, Raechel Ferrier, MSc, MA, CCGC, Cathleen Huculak, MSc, CCGC, Julien Marcadier, MD, FRCPC, Consolato Sergi, MD, PhD, FRCPC, Francois P. Bernier, MD, FRCPC

    Diterbitkan 2021-10-01
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  2. 2
    Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

    Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. oleh Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, Mark Samuels

    Diterbitkan 2007-08-01
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  3. 3
    P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder

    P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder oleh Sam Bradbrook, Gail Graham, Melissa Carter, Maria Kibaek, Martin Larsen, Christina Fagerberg, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Bertrand Isidor, Stéphane Bezieau, Benjamin Cogné, Marie Vincent, Katherine Bjorgo, Thomas Courtin, Lisa Emrick, Jill Rosenfeld, Undiagnosed Diseases Network, Julian Martinez-Agosto, Mathilde Heulin, Gilles Morin, Pauline Monin, Louis Januel, Marie-Noëlle Bonnet-Dupeyron, Mathilde Pujalte, Kim Worley, Monika Weisz-Hubshman, Patricia Dickson, Michelle Thompson, Julien Marcadier

    Diterbitkan 2024-01-01
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