Results 111 to 120 of about 205,744 (267)
, 1894 Worlds Fair supplement to the Orange County Reporter containing articles on industry, the history, agriculture, etc.
Orange County Reporter (Orlando, Fla )
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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.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
Orange County Reporter, February 21, 1884
, 1884 Orange County Reporter newspaper from February 21, 1884 to December 25, 1884.https://stars.library.ucf.edu/cfm-orangecountyreporter/1000/thumbnail ...
Orange County Reporter
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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Orange County Reporter, November 20, 1884
, 1884 Orange County Reporter newspaper from February 21, 1884 to December 25, 1884.https://stars.library.ucf.edu/cfm-orangecountyreporter/1045/thumbnail ...
Orange County Reporter
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Orange County Reporter, April 24, 1884
, 1884 Orange County Reporter newspaper from February 21, 1884 to December 25, 1884.https://stars.library.ucf.edu/cfm-orangecountyreporter/1010/thumbnail ...
Orange County Reporter
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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 +72 more
wiley +1 more source
Christine Fontanini, Orientation et parcours des filles et des garçons dans l’enseignement supérieur
Recherches en Éducation, 2017 Sophie Orange
doaj +1 more source
Orange County Reporter, April 17, 1884
, 1884 Orange County Reporter newspaper from February 21, 1884 to December 25, 1884.https://stars.library.ucf.edu/cfm-orangecountyreporter/1009/thumbnail ...
Orange County Reporter
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