Results 231 to 240 of about 522,025 (259)

From coverage to care: how basic medical insurance shapes patients' experiences of primary care in China. [PDF]

Front Epidemiol
Xu C, Xu W, You J, Chen G, Miao S.
europepmc   +1 more source

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

Improved Microplastic Identification from Simultaneously Collected Photothermal Infrared and Raman Spectra Using Multiview Conformal Prediction. [PDF]

ACS Meas Sci Au
Parham RL, Ochoa Rivera E, Ayala AM, Clough ME, Patel Y, McNeil AJ, Tewari A, Ault AP.   +7 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Preoperative imaging evaluation of primary trigeminal neuralgia using 3D TOF-MRA and 3D FIESTA-c: A retrospective study of 412 cases. [PDF]

J Neurol
Huang Y, Huang Y, Xiao C, Huang Q, Chai X.   +4 more
europepmc   +1 more source

Association of Emergency Department Buprenorphine Initiation With Subsequent Pharmacotherapy and Outcomes Among Patients With Opioid Use Disorder. [PDF]

J Addict Med
Treitler P, Akincigil A, Peterson NA, Williams AR, Crystal S.   +4 more
europepmc   +1 more source

A Systematic Process to Accurately Link Large-Scale Research Consents to State Public Health Newborn Screening Samples. [PDF]

Int J Neonatal Screen
Cheves E, Frawley HE, Gwaltney AY, Forsythe AN, Scott S, Mathews JC, Dibble J, Reeve T, Bakalov V, Dass M, Cope HL, Scharfe C, Peay H.   +12 more
europepmc   +1 more source

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A review of multimodal image matching: Methods and applications

Information Fusion, 2021
Xingyu Jiang, Jiayi Ma, Guobao Xiao
exaly