Results 81 to 90 of about 335,205 (266)
Barnes Hospital Bulletin [PDF]
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1215/thumbnail ...
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
[english] The University Library of the Medical University of Vienna, founded in 2004, is the most extensive medical library in Austria. It possesses an outstanding medical-historic stock which is basically stored in its Branch Library of Medical History.
Albrecht, Harald +2 more
doaj +1 more source
Special Libraries, February 1946 [PDF]
Volume 37, Issue 2https://scholarworks.sjsu.edu/sla_sl_1946/1001/thumbnail ...
Special Libraries Association
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FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
[english] The focus of the current issue 3/2012 of GMS Medizin – Bibliothek – Information is the annual conference 2012 of the German Medical Libraries Association in Aachen. The motto of the conference was “Medical Libraries 20XX.
Bauer, Bruno
doaj +1 more source
Special Libraries, February 1940 [PDF]
Volume 31, Issue 2https://scholarworks.sjsu.edu/sla_sl_1940/1001/thumbnail ...
Special Libraries Association
core +5 more sources
Emil du Bois-Reymond on "The Seat of the Soul" [PDF]
The German pioneer of electrophysiology, Emil du Bois-Reymond (1818–1896), is generally assumed to have remained silent on the subject of the brain. However, the archive of his papers in Berlin contains manuscript notes to a lecture on “The Seat of the ...
Finkelstein, Gabriel
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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 +21 more
wiley +1 more source
Natural language processing [PDF]
Beginning with the basic issues of NLP, this chapter aims to chart the major research activities in this area since the last ARIST Chapter in 1996 (Haas, 1996), including: (i) natural language text processing systems - text summarization, information ...
Adams +101 more
core +1 more source

