Results 71 to 80 of about 728,108 (317)
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
Corruption In Nepal: An Anthropological Inquiry
Dhaulagiri Journal of Sociology and Anthropology, 2006 For at least a decade and more obtrusively in recent years, the problem of corruption has been at the center of the political agenda in Nepal. It is recognized as one of the chief causes of Nepal’s underdevelopment.
Madhusudan Sharma Subedi
doaj +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 +72 more
wiley +1 more source
Psychological contract expectations of construction project managers
, 2004 The past 20 years have seen a period of fundamental change for many construction businesses as they have restructured, downsized, de-layered, merged and de-merged to survive turbulent markets and rapidly changing demand cycles.
Dainty, ARJ, Neale, RH, Raidén, AB
core +1 more source
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Vacuum road map of New South Wales [cartographic material] /
, 1950 Road map of New South Wales showing state highways, main roads and railways.; Inset: Routes - N.S.W to Brisbane.; Includes index of "Principal towns and distances from Sydney..", "What to see in Sydney...." and "Traffic hints".; Also available in an ...
Australian Contract Drafting Co.
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Frontiers in Marine ScienceOcean gliders equipped with acoustic telemetry receivers offer a promising approach for studying the movement of marine fishes, yet most surveys to date have been brief and rarely include direct comparisons with traditional stationary tracking methods ...
Eric Reyier +6 more
doaj +1 more source
Specialist in Procurement as the Owner of the Public Procurement Process
Управленческое консультирование, 2018 This article proposes recommendations on how to organize the procurement process for state and municipal customers based on the Deming-Schuhart principle (the PDCA cycle).
Aleksey Evgenevich Kuzmin +1 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
The tort/contract boundary: great divide or grand illusion [PDF]
, 1997 This thesis considers the difference between contract and the tort of negligence. It compares the traditional view of the distinction with a more contemporary view, and concludes that the two areas of law are becoming interrelated.
Branson, David J.
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