نتائج البحث - Carsten Bönneman
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1
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 حسب Volker Straub, Alexander P. Murphy, Bjarne Udd, C. Angelini, Ségolène Aymé, Carsten Bönneman, Marjolein Visser, Ada Hamosh, Laura Jacobs, Nina Khizanishvili, Madelon Kroneman, Pascal Laflorêt, A. St. J. Murphy, Vincenzo Nigro, Laura Rufibach, Anna Sárközy, Shaun Swanepoel, Ivan Torrente, Bjarne Udd, Andoni Urtizberea, John Vissing, Maggie C. Walter
منشور في 2018Artigo -
2
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy حسب Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones, Bjarne Udd, Zohar Argov, Alexandru Barboi, Carsten Bönneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas P. Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Van den Bergh, Juan J. Vílchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige, Nigel G. Laing
منشور في 2014Artigo -
3
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria حسب Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo
منشور في 2023Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Gene
Genetics
Mutation
Proband
Anatomy
Biochemistry
Botany
Cell biology
DNA sequencing
Epilepsy
Exome
Exome sequencing
Gene isoform
Genetic testing
Hypertrophic cardiomyopathy
Internal medicine
MYH7
Massive parallel sequencing
Muscle weakness
Myopathy
Myosin
Nomenclature
Phenotype
Polymicrogyria
Psychiatry
Skeletal muscle
Taxonomy (biology)