Results 201 to 210 of about 484,058 (266)

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

An Open Pharma Vision for company-sponsored biomedical research publications. [PDF]

BMJ Open
Osório J, Baróniková S, Dews SA, Mysore S, Patrikis K, Philippon V, Rains CP, Schmidt A, Skobe C, Winchester CC.   +9 more
europepmc   +1 more source

FAIR m-BIDS: Advancing brain data utilization through multimodal and FAIR principles. [PDF]

Sci Data
Mirhosseini SM, Naseri H, Siahlou B, Panahi Arasi M, Monazami Eslami S, Safaei AA.   +5 more
europepmc   +1 more source

Browsing FAIR Transformation Product Information with FAIR-TPs. [PDF]

ACS Environ Au
Mayahi B, Palm EH, Schymanski EL.
europepmc   +1 more source

Composition and Legal Aspects of Reptiles and Amphibians Displayed at an Exotic Pet Fair in Warsaw (Poland). [PDF]

Animals (Basel)
Zieliński D, Nawłatyna P, Wójcik Z.
europepmc   +1 more source

Empowering precollege data science education with an innovative learning portal. [PDF]

Discov Educ
Shalmani MA, Berg C, Carvan MJ, Hesselbach RA, Petering D, Schiebenes K, Shukla R, Tomasiewicz HG, Weber DN, Luo J.   +9 more
europepmc   +1 more source

The Scottish Fair as seen in Eighteenth- and Nineteenth-Century Sources

Scottish Studies, 1999
John Morris
doaj  

Journal research data policies in materials science.

Digit Discov
Hörmann L, Myneni H, Al-Hamd RKS, Batalović K, Bonfanti S, Grasselli F, Gražulis S, Koç B, Konstantinou K, Lončarić I, Lopanitsyna N, Oliveira JM, Pegolo P, Ramos P, Rossi K, Schwaminger SP, Simmen E, Todorović M, Stricker M, Schmidt J.   +19 more
europepmc   +1 more source

Investments in Childhood Community Resources and Subsequent Adult Health Outcomes.

JAMA Netw Open
La Charite J, Dudovitz R, Choi K, Chen K, Jackson NJ, Nuckols T, Sastry N, Schickedanz A, Wong MD, Zimmerman FJ.   +9 more
europepmc   +1 more source