檢索結果 - Michael C. Schneider
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Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability 由 Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg, Katherine L. Helbig, Christina Engel Hoei‐Hansen, Mahmoud Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C. Schneider, Katrine M. Johannesen, Gerhard Kurlemann, Elena Gardella, Felicitas Becker, Yvonne G. Weber, Jan Benda, Rikke S. Møller, Holger Lerche
出版 2018Artigo -
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Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment 由 Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Levesque, Marie-Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon G. Sattler, Michael C. Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A. Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca O. Littlejohn, Sofia Douzgou, André Tremblay, Jacques L. Michaud
出版 2016Artigo -
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features 由 Karen Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David Fitzpatrick, Mark Greenslade, Alex Henderson, Jane A. Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja Kristine Selmer, Michael C. Schneider, Fiona Stewart, Katrina Tatton‐Brown, Julien Thévenon, Magnus Dehli Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D.D.D. Study, Sarah Smithson
出版 2017Artigo -
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Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature 由 Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa
出版 2018Revisão
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