检索结果 - Marcus Lee
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Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement 由 Rebecca C. Ahrens‐Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti‐Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Fıçıcıoğlu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura Adang
出版 2018Artigo -
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Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita 由 Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul‐Rahman, Vanessa Suckow, Alberto Fernández‐Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn Macville, Salwan Al‐Nasiry, Koen L.I. van Gassen, N Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri Aasland Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. M. Hennekam, Hiromi Hirata, Vera M. Kalscheuer
出版 2019Artigo
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