Results 141 to 150 of about 29,415,403 (310)

Bio-Medical Library Bulletin, No. 28 (1972-12)

, 1972
Bio-Medical Library. (1972). Bio-Medical Library Bulletin, No. 28 (1972-12).
Bio-Medical Library
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

122nd Annual Meeting Medical Library Association, Inc. New Orleans, LA May 3-6, 2022. [PDF]

J Med Libr Assoc, 2023
Pionke JJ, Aaronson EM.
europepmc   +1 more source

Bio-Medical Library Bulletin, No. 53 (1977-09)

, 1977
Bio-Medical Library. (1977). Bio-Medical Library Bulletin, No. 53 (1977-09).
Bio-Medical Library
core  

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

The move to open: medical library leadership in scholarly communication. [PDF]

J Med Libr Assoc, 2021
Shaffer C.
europepmc   +1 more source

Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran, Malo Gaubert, Alice Dufey, Elise Bannier, Audrey Rico, Jean‐Christophe Ferré, Raphaël Chouteau, Laure Michel, Emmanuelle Le Page, Virginie Callot, Bertrand Audoin, Sarah Demortière, Benoît Combès, Anne Kerbrat   +13 more
wiley   +1 more source

Shannon D. Jones, MLS, MEd, AHIP, FMLA, Medical Library Association President, 2022-2023. [PDF]

J Med Libr Assoc, 2022
Bartley K, Nelson TM, Williams J, Weeks A.   +3 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Medizinbibliothekarische Bibliografie 2009 / The Medical Librarian's Bibliography 2009

GMS Medizin – Bibliothek – Information, 2010
The Medical Librarian’s Bibliography 2009 lists all articles from GMS Medizin – Bibliothek – Information and selected publications relevant to medical librarians from following journals: ABI Technik, Bibliothek Forschung und Praxis, Bibliotheksdienst ...
Bauer, Bruno
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