Výsledky vyhledávání - Janis Stavusis

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  1. 1
    Novel mutations in <i>MYBPC1</i> are associated with myogenic tremor and mild myopathy

    Novel mutations in <i>MYBPC1</i> are associated with myogenic tremor and mild myopathy Autor Janis Stavusis, Baiba Lāce, Jochen Schäfer, Janelle Geist, Inna Inashkina, Dita Kidere, Sander Pajusalu, Nathan T. Wright, Annika Saak, Manja Weinhold, Dietrich Haubenberger, Sandra L. Jackson, Aikaterini Kontrogianni‐Konstantopoulos, Carsten G. Bönnemann

    Vydáno 2019
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  2. 2
    Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate Autor Elisabeth Mangold, Anne C. Böhmer, Nina Ishorst, Ann‐Kathrin Hoebel, Pınar Gültepe, Hannah Schuenke, Johanna Klamt, Andrea Hofmann, Lina Gölz, Ruth Raff, Peter Teßmann, Stefanie Nowak, Heiko Reutter, Alexander Hemprich, Thomas Kreusch, Franz‐Josef Kramer, Bert Braumann, Rudolf H. Reich, Gül Schmidt, Andreas Jäger, Rudolf Reiter, Sibylle Brosch, Janis Stavusis, Miho Ishida, Rimante Seselgyte, Gudrun E. Moore, Markus M. Nöthen, Guntram Borck, Khalid Aldhorae, Baiba Lāce, Philip Stanier, Michael Knapp, Kerstin U. Ludwig

    Vydáno 2016
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  3. 3
    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

    Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases Autor Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Vida Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lāce, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krūmiņa, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El‐Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Júlia Baptista, Adam C. Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais Hashem, Hesham Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau

    Vydáno 2019
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