Results 181 to 190 of about 11,637 (211)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Exo-Geoscience Perspectives Beyond Habitability. [PDF]

Space Sci Rev
Spohn T, Roberge A, Way MJ, Duarte JC, Miozzi F, Baumeister P, Byrne P, Lineweaver CH.   +7 more
europepmc   +1 more source

Pattern functions of the Astrometric Gravitational Wave Antenna. [PDF]

Sci Rep
Santucci F, Crosta M, Lattanzi MG.
europepmc   +1 more source

Determination of the mass distribution of the first stars from the 21-cm signal. [PDF]

Nat Astron
Gessey-Jones T, Sartorio NS, Bevins HTJ, Fialkov A, Handley WJ, de Lera Acedo E, Mirouh GM, Izzard RG, Barkana R.   +8 more
europepmc   +1 more source

Single-port <i>versus</i> multiport robotic surgery in head and neck procedures: a systematic review and meta-analysis of surgical parameters. [PDF]

Ann Surg Treat Res
Mahfoz TB.
europepmc   +1 more source

Relationship Between Anemia and Oral Lichen Planus: New Therapeutic Perspectives Based on Anemia Management-A Systematic Review and Meta-Analysis. [PDF]

J Clin Med
Egido-Moreno S, Valls-Roca-Umbert J, Schemel-Suárez M, Vidal-Bel A, Blanco-Carrión A, López-López J.   +5 more
europepmc   +1 more source

Measuring the magnetic fields in the chromospheres of low-mass stars. [PDF]

Nat Commun
Cang T, Petit P, Donati JF, Tian H, Fu J, Li H, Bellotti S, Hu X, Ma X, Lopez Ariste A, Xing K, Morin J, Lu H, Zong W.   +13 more
europepmc   +1 more source

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The Fundamental Parameters of Massive Stars

AIP Conference Proceedings, 2009
We analyzed far‐UV (FUSE), UV (HST, IUE) and optical spectra of hot massive stars in the Milky Way with non‐LTE, line‐blanketed models with sphericity and expanding winds. We were able to reconcile previously discrepant diagnostics from Hα to highly ionized transitions (e.g.
Luciana Bianchi, James Herald, Miriam Garcia, Michael E. Van Steenberg, George Sonneborn, H. Warren Moos, William P. Blair   +6 more
openaire   +1 more source

Asteroseismic Determination of sdB Stars Fundamental Parameters

Astrophysics and Space Science, 2004
Recent observational efforts and theoretical breakthroughs have encouraged the development of detailed asteroseismic analyses of rapidly oscillating sdB stars (the so-called EC14026 stars). This led to the first seismic determinations of the fundamental parameters that define the structure of EHB stars.
Stéphane Charpinet, Pierre Brassard, Gilles Fontaine   +2 more
openaire   +1 more source