Zobrazeno 1 - 10
of 320
pro vyhledávání: '"Michel, Koenig"'
Autor:
Leonard Wegert, Stephan Schreiner, Constantin Rauch, Bruno Albertazzi, Paulina Bleuel, Eric Fröjdh, Michel Koenig, Veronika Ludwig, Artem S. Martynenko, Pascal Meyer, Aldo Mozzanica, Michael Müller, Paul Neumayer, Markus Schneider, Angelos Triantafyllidis, Bernhard Zielbauer, Gisela Anton, Thilo Michel, Stefan Funk
Publikováno v:
Matter and Radiation at Extremes, Vol 9, Iss 4, Pp 047803-047803-8 (2024)
Single-shot X-ray phase-contrast imaging is used to take high-resolution images of laser-driven strong shock waves. Employing a two-grating Talbot interferometer, we successfully acquire standard absorption, differential phase-contrast, and dark-fiel
Externí odkaz:
https://doaj.org/article/026d4e0759c640d0b58097140b20bef9
Autor:
Sergey Makarov, Sergey Dyachkov, Tatiana Pikuz, Kento Katagiri, Hirotaka Nakamura, Vasily Zhakhovsky, Nail Inogamov, Victor Khokhlov, Artem Martynenko, Bruno Albertazzi, Gabriel Rigon, Paul Mabey, Nicholas J. Hartley, Yuichi Inubushi, Kohei Miyanishi, Keiichi Sueda, Tadashi Togashi, Makina Yabashi, Toshinori Yabuuchi, Takuo Okuchi, Ryosuke Kodama, Sergey Pikuz, Michel Koenig, Norimasa Ozaki
Publikováno v:
Matter and Radiation at Extremes, Vol 8, Iss 6, Pp 066601-066601-11 (2023)
Understanding the behavior of matter at extreme pressures of the order of a megabar (Mbar) is essential to gain insight into various physical phenomena at macroscales—the formation of planets, young stars, and the cores of super-Earths, and at micr
Externí odkaz:
https://doaj.org/article/b813a08031954e418ffd20380cd82cfd
Autor:
Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, Corinne Thèze, Delphine Lacourt, Henri Pégeot, Emmanuelle Uro‐Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valérie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Métay, Mireille Cossée
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1906-1912 (2021)
Abstract The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete m
Externí odkaz:
https://doaj.org/article/82ea21e674cb43eba36e02589a86a40a
Autor:
Kevin Yauy, Charles Van Goethem, Henri Pégeot, David Baux, Thomas Guignard, Corinne Thèze, Olivier Ardouin, Anne-Françoise Roux, Michel Koenig, Anne Bergougnoux, Mireille Cossée
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7330 (2023)
The transition from targeted to exome or genome sequencing in clinical contexts requires quality standards, such as targeted sequencing, in order to be fully adopted. However, no clear recommendations or methodology have emerged for evaluating this t
Externí odkaz:
https://doaj.org/article/327853dbd7994c58bb6fca18d657760b
Autor:
Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 846-854 (2020)
Abstract Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two sib
Externí odkaz:
https://doaj.org/article/a55c80afb6a34fee80ea91d426340250
Publikováno v:
Matter and Radiation at Extremes, Vol 6, Iss 2, Pp 023001-023001-2 (2021)
Externí odkaz:
https://doaj.org/article/9a48394718034b79881330aa6a91a84d
Publikováno v:
Matter and Radiation at Extremes, Vol 6, Iss 1, Pp 013002-013002-2 (2021)
Externí odkaz:
https://doaj.org/article/330c47ea2d5d4c1f8e573a4539c4d7d0
Autor:
Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicate
Externí odkaz:
https://doaj.org/article/7b788bb3d7c2403c815d579012188e3e
Autor:
Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus, Bertrand Isidor, Catherine Blanchet, David Baux, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 207 (2022)
GSDME, also known as DFNA5, is a gene implicated in autosomal dominant nonsyndromic hearing loss (ADNSHL), affecting, at first, the high frequencies with a subsequent progression over all frequencies. To date, all the GSDME pathogenic variants associ
Externí odkaz:
https://doaj.org/article/1a0d5f9b33f8483ba90ee067fe0abd44
Autor:
Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13294 (2021)
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two m
Externí odkaz:
https://doaj.org/article/60bf793686c64932a496b57b4a231434