Hasil Pencarian - Louis Januel

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  1. 1
    Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

    Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia oleh Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella

    Diterbitkan 2024-06-01
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  2. 2
    Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

    Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly oleh Ethiraj Ravindran, Ethiraj Ravindran, Ethiraj Ravindran, Gaetan Lesca, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl

    Diterbitkan 2023-02-01
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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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